Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039776 | SCV000063465 | likely benign | not specified | 2016-01-07 | criteria provided, single submitter | clinical testing | p.Lys34Lys in exon 3 of MYLK2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (36/16510) of South Asian chromosomes including 2 homozygous individuals by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs28763880). |
Invitae | RCV000468992 | SCV000556761 | benign | Hypertrophic cardiomyopathy 1 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170849 | SCV001333469 | benign | Cardiomyopathy | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039776 | SCV001478752 | benign | not specified | 2021-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001642566 | SCV001857843 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381316 | SCV002693364 | likely benign | Inborn genetic diseases | 2022-05-30 | 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. |
Ce |
RCV001642566 | SCV004152563 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MYLK2: BP4, BP7, BS2 |