ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)

gnomAD frequency: 0.00124  dbSNP: rs144321381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117683 SCV000151930 benign not specified 2017-02-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000449650 SCV000537876 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000449650 SCV001028152 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000449650 SCV004141982 benign not provided 2024-08-01 criteria provided, single submitter clinical testing MYH8: BS1, BS2

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