Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176052 | SCV000227645 | uncertain significance | not provided | 2014-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649237 | SCV000771062 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000176052 | SCV001501427 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |
Ambry Genetics | RCV002444705 | SCV002752928 | likely benign | Cardiovascular phenotype | 2021-04-26 | 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. |