ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) (rs143048583)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154755 SCV000204435 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn1635Asn in exon 33 of MYH6: 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 1/7020 European Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS; dbSNP rs143048583). Asn1635Asn in exon 33 of MYH6 (rs143048583; alle le frequency = 1/7020) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724141 SCV000229656 uncertain significance not provided 2014-09-01 criteria provided, single submitter clinical testing
Invitae RCV001089380 SCV000287433 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000154755 SCV000715784 likely benign not specified 2017-06-21 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.
Ambry Genetics RCV000617571 SCV000736204 likely benign Cardiovascular phenotype 2015-12-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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