Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213817 | SCV000272015 | uncertain significance | not specified | 2015-12-10 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ser385Leu var iant in MYH6 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.2% (19/8650) of East Asian chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7783191 08). Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, while the clini cal significance of the p.Ser385Leu variant is uncertain, its frequency suggests that it is more likely to be benign. |
Ambry Genetics | RCV000620614 | SCV000736240 | likely benign | Cardiovascular phenotype | 2021-10-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000868102 | SCV001009398 | likely benign | Hypertrophic cardiomyopathy 14 | 2024-01-17 | criteria provided, single submitter | clinical testing |