ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) (rs372158844)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217654 SCV000270450 likely benign not specified 2016-02-19 criteria provided, single submitter clinical testing p.Thr1379Thr in exon 29 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 13/66716 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs372158844).
GeneDx RCV000217654 SCV000724548 likely benign not specified 2017-11-15 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 RCV000619504 SCV000737227 likely benign Cardiovascular phenotype 2017-02-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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