ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) (rs374289523)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758043 SCV000564474 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4974C>T (p.Asp1658=) variant in the MYH7 gene is 0.36% (53/11558) of Latino 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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035942 SCV000859700 benign not specified 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000474208 SCV000557967 benign Hypertrophic cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035942 SCV000059593 likely benign not specified 2010-07-16 criteria provided, single submitter clinical testing This variant has not yet been reported. It is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.

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