Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172703 | SCV000051480 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000154998 | SCV000204680 | likely benign | not specified | 2015-05-21 | criteria provided, single submitter | clinical testing | p.Val4012Met in exon 45B in TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 5 mammals (bushbaby, squirrel, hedgehog, aardvark, and Tasmanian devil) ha ve a methionine (Met) at this position despite amino acid conservation at nearby positions. It has been identified in 0.1% (93/66496) of European chromosomes, i ncluding 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs201437752). |
Gene |
RCV000172703 | SCV000238180 | likely benign | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172703 | SCV000336234 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621842 | SCV000735760 | likely benign | Cardiovascular phenotype | 2018-08-23 | 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. |
Center for Advanced Laboratory Medicine, |
RCV000852922 | SCV000995664 | likely benign | Primary dilated cardiomyopathy; Cardiomyopathy | 2019-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085765 | SCV001001863 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172703 | SCV001153098 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |
Athena Diagnostics | RCV000154998 | SCV001880209 | benign | not specified | 2020-10-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798510 | SCV002042363 | benign | Cardiomyopathy | 2020-07-02 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000172703 | SCV001743372 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154998 | SCV001919448 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000172703 | SCV001928389 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000154998 | SCV001956911 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172703 | SCV001971663 | likely benign | not provided | no assertion criteria provided | clinical testing |