ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2907C>T (p.His969=) (rs142573531)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620607 SCV000739968 likely benign Cardiovascular phenotype 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758045 SCV000564488 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2907C>T (p.His969=) variant in the MYH7 gene is 0.15% (23/10406) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
GeneDx RCV000035832 SCV000170520 benign not specified 2014-03-25 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 RCV000205843 SCV000259723 benign Hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035832 SCV000059483 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing p.His969His in exon 23 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (23/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs142573631).

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