ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1545C>T (p.Gly515=)

gnomAD frequency: 0.00001  dbSNP: rs200235378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819535 SCV000960200 uncertain significance Hypertrophic cardiomyopathy 14 2021-09-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700463 SCV001924923 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700463 SCV001932720 uncertain significance not provided no assertion criteria provided clinical testing

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