ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2553C>A (p.Ser851=) (rs144291282)

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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, RCV000758050 SCV000564490 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2553C>A (p.Ser851=) variant in the MYH7 gene is 0.18% (27/10406) 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).
Color RCV000758050 SCV000913780 benign Cardiomyopathy 2018-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000035804 SCV000170517 benign not specified 2012-04-07 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 RCV000228149 SCV000284266 benign Hypertrophic cardiomyopathy 2017-10-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035804 SCV000059455 benign not specified 2016-04-20 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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