Submit a variant | Precision Medicine Integrated Experimental Resources (PreMIER) Platform

Please do not include any identifiable patient information in this form.

Submit a variant to the Expert Panel

Submitting researcher(s) *

Email of main contact researcher *

Gene name *

Variant Inheritance *

De novo, etc

ACMG Classification, if available (Pathogenic, Likely Pathogenic, VUS)

Human Reference Genome Assembly * Human Reference Genome Assembly

Genomic Position (Chromosome number and genomic coordinates) *

Ref/Alt *

Transcript (e.g. NM_000111 or ENST00001111)

cDNA coordinates (e.g. c.101A>G) *

Protein coordinates (e.g. p.Ala101Pro)

Zygosity *

Has this variant been Sanger confirmed? *

Additional information, including brief de-identified description of phenotypic presentation, age of onset, etc. *

Is this a known disease gene?

Yes

Not sureNot sure

If yes, please indicate the OMIM number or relevant publication, if not yet in OMIM. If no/not sure, please explain your thinking for the case.

Have you identified any additional cases through collaborators or GeneMatcher, etc?

What do you hope to gain about your case by submitting to PreMIER (e.g. evidence for pathogenicity, mechanism, etc) *

(Optional) Include any relevant, de-identified files.

Maximum file size: 51.2MB

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