ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.36C>T (p.Gly12=) (rs139794370)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036399 SCV000060054 likely benign not specified 2013-08-22 criteria provided, single submitter clinical testing Gly12Gly in exon 2 of MYL2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (5/4406) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs139794370). Gly12Gly in exon 2 of MYL2 (rs139794370; allele frequency = 0.1%, 5/4406) **
GeneDx RCV000036399 SCV000513818 likely benign not specified 2017-11-29 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 RCV000457321 SCV000560086 benign Familial hypertrophic cardiomyopathy 10 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622196 SCV000740092 likely benign Cardiovascular phenotype 2017-02-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001178576 SCV001343048 benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036399 SCV001432011 benign not specified 2020-08-24 criteria provided, single submitter clinical testing

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