ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)

gnomAD frequency: 0.00001  dbSNP: rs763538103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769440 SCV000900833 uncertain significance Cardiomyopathy 2016-05-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780518 SCV000917842 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769440 SCV001355258 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398651 SCV001600425 likely benign Hypertrophic cardiomyopathy 2024-03-18 criteria provided, single submitter clinical testing

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