Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649206 | SCV000771031 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001701428 | SCV002073459 | likely benign | not specified | 2022-01-17 | criteria provided, single submitter | clinical testing | This synonymous variant has occurred in GnomAD with a total MAF of 0.0048% and with the highest MAF of 0.0077% in the European population. This position is not conserved. In silico splicing algorithm predicted no impact on splicing, but no functional studies were performed to confirm this prediction. This variant NM_001458.5(FLNC):c.6864C>T (p.Val2288=) is present in the ClinVar database (ID: 539468). The variant has not occurred in the literature in association with the disease. Considering that the variant has a relatively high frequency in a subpopulation, it has been classified as Likely Benign. |
Ambry Genetics | RCV002360627 | SCV002662865 | likely benign | Cardiovascular phenotype | 2019-06-17 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486912 | SCV004240673 | likely benign | Cardiomyopathy | 2023-01-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001701428 | SCV001925362 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001703223 | SCV001927528 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001703223 | SCV001953217 | likely benign | not provided | no assertion criteria provided | clinical testing |