Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177456 | SCV000229315 | benign | not specified | 2015-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000546030 | SCV000651055 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721115 | SCV000728451 | benign | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28356264) |
Ambry Genetics | RCV002345617 | SCV002646334 | likely benign | Cardiovascular phenotype | 2019-02-20 | 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. |
ARUP Laboratories, |
RCV001721115 | SCV004562197 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000177456 | SCV001920123 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000177456 | SCV001953457 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001721115 | SCV001964372 | likely benign | not provided | no assertion criteria provided | clinical testing |