Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154767 | SCV000204447 | likely benign | not specified | 2014-12-29 | criteria provided, single submitter | clinical testing | p.Ala374Ala in exon 12 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (138/74414) of European (Finnish and non-Finnish) chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs148091079). |
Invitae | RCV000466661 | SCV000557923 | benign | Hypertrophic cardiomyopathy 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001528761 | SCV000715145 | likely benign | not provided | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617361 | SCV000736977 | likely benign | Cardiovascular phenotype | 2015-06-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV000769426 | SCV000900819 | benign | Cardiomyopathy | 2017-07-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000154767 | SCV001157369 | benign | not specified | 2019-05-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528761 | SCV001747700 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | MYH6: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154767 | SCV001983551 | benign | not specified | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001528761 | SCV001741075 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154767 | SCV001923134 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528761 | SCV001929968 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000154767 | SCV001958653 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528761 | SCV001966969 | likely benign | not provided | no assertion criteria provided | clinical testing |