ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) (rs45501694)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758027 SCV000564482 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3864C>G (p.Ser1288=) variant in the MYH7 gene is 1.33% (159/10404) 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 RCV000035872 SCV000170528 benign not specified 2011-06-27 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 RCV000206817 SCV000260027 benign Hypertrophic cardiomyopathy 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035872 SCV000059523 benign not specified 2008-01-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035872 SCV000303229 benign not specified criteria provided, single submitter clinical testing

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