Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000039788 | SCV000051575 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039788 | SCV000063477 | benign | not specified | 2012-04-04 | criteria provided, single submitter | clinical testing | Pro144Ala in Exon 03 of MYLK2: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (137/7018) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34396614). |
Gene |
RCV000039788 | SCV000170576 | benign | not specified | 2014-03-10 | 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. |
Invitae | RCV000205159 | SCV000261623 | benign | Hypertrophic cardiomyopathy 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000205159 | SCV001141228 | likely benign | Hypertrophic cardiomyopathy 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000205159 | SCV001159092 | benign | Hypertrophic cardiomyopathy 1 | 2023-08-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000030331 | SCV001333471 | benign | Cardiomyopathy | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003436924 | SCV004152565 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | MYLK2: BP4, BS1, BS2 |
Prevention |
RCV003964820 | SCV004789906 | benign | MYLK2-related disorder | 2019-03-13 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030331 | SCV000052998 | benign | Cardiomyopathy | 2013-12-09 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000039788 | SCV001930483 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039788 | SCV001959027 | benign | not specified | no assertion criteria provided | clinical testing |