Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155802 | SCV000205513 | benign | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201016285). |
Ambry Genetics | RCV000244312 | SCV000319078 | benign | Cardiovascular phenotype | 2018-09-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV000155802 | SCV000515729 | benign | not specified | 2017-01-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000756392 | SCV000557918 | benign | Hypertrophic cardiomyopathy 14 | 2025-02-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003654212 | SCV000884191 | benign | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852693 | SCV000995403 | benign | Cardiomyopathy | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544443 | SCV004789241 | likely benign | MYH6-related disorder | 2019-03-12 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |