ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.882C>A (p.Ala294=)

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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 RCV003747437 SCV004450209 likely benign Polyglucosan body myopathy type 1 2023-03-29 criteria provided, single submitter clinical testing

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