ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2430-4C>A

gnomAD frequency: 0.00023  dbSNP: rs376527296
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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 RCV000245182 SCV000319588 likely benign Cardiovascular phenotype 2019-12-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000461069 SCV000717471 likely benign not provided 2018-09-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769417 SCV000900810 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473627 SCV001677781 likely benign Hypertrophic cardiomyopathy 14 2024-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222461 SCV002500509 benign not specified 2022-03-19 criteria provided, single submitter clinical testing

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