ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1410C>T (p.Asp470=) (rs139886074)

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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 RCV000154764 SCV000204444 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing Asp470Asp in exon 13 of MYH6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue. Although this variant is located in the 5' splice region, the nucleotide is not conserved and computa tional tools do not suggest an impact to splicing. Additionally, it has been id entified in 2/8600 European American chromosomes by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS/; dbSNP rs139886074).
Ambry Genetics RCV000247793 SCV000318343 likely benign Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000154764 SCV000718017 likely benign not specified 2017-04-04 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 RCV001087003 SCV000826404 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786372 SCV000925180 uncertain significance not provided 2015-12-16 no assertion criteria provided provider interpretation

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