Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177639 | SCV000229540 | uncertain significance | not provided | 2014-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552189 | SCV000651076 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345618 | SCV002641647 | likely benign | Cardiovascular phenotype | 2024-03-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Revvity Omics, |
RCV000177639 | SCV003833147 | likely benign | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing |