ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.900T>C (p.Cys300=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003061414 SCV003459153 likely benign Polyglucosan body myopathy type 1 2024-03-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434563 SCV004149731 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing RBCK1: BP4, BP7

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