Submit a variant 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 * GRCh37/hg19GRCh38/hg38Other 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 No 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. Drop a file here or click to upload Choose File Maximum file size: 51.2MB reCAPTCHA If you are human, leave this field blank. Submit Δ