ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.243G>T (p.Val81=) (rs368851472)

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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 RCV000036386 SCV000060041 likely benign not specified 2013-01-23 criteria provided, single submitter clinical testing Val81Val in exon 4 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 1/8600 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS/). Val81Val in exon 4 of MYL2 (allele frequency = 1/8600) **
Invitae RCV000552836 SCV000638392 benign Familial hypertrophic cardiomyopathy 10 2020-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619440 SCV000739996 likely benign Cardiovascular phenotype 2016-08-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769366 SCV000900754 likely benign Cardiomyopathy 2017-03-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769366 SCV000904580 benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036386 SCV001467745 benign not specified 2020-12-28 criteria provided, single submitter clinical testing

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