ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)

dbSNP: rs2122338869
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460646 SCV001664524 likely benign Polyglucosan body myopathy type 1 2019-11-25 criteria provided, single submitter clinical testing

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