ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3993C>T (p.His1331=) (rs200288088)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168899 SCV000170530 benign not specified 2013-09-20 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168899 SCV000710881 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.His1331His in exon 30 of MYH7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Color Health, Inc RCV000771905 SCV000904669 likely benign Cardiomyopathy 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV000863815 SCV001004533 likely benign Hypertrophic cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771905 SCV001333900 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing

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