Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155804 | SCV000205515 | likely benign | not specified | 2013-09-06 | criteria provided, single submitter | clinical testing | Ala822Thr in exon 21 of MYH6: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (3/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs138419275). Ala822 Thr in exon 21 of MYH6 (rs138419275; allele frequency = 1.7%, 3/178) |
Invitae | RCV000647085 | SCV000768872 | likely benign | Hypertrophic cardiomyopathy 14 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000155804 | SCV003934834 | likely benign | not specified | 2023-05-28 | criteria provided, single submitter | clinical testing |