ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1044G>A (p.Glu348=)

dbSNP: rs2122324309
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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 RCV002220740 SCV002363441 likely benign Polyglucosan body myopathy type 1 2021-11-21 criteria provided, single submitter clinical testing

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