ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1308+19C>T

gnomAD frequency: 0.00005  dbSNP: rs554956050
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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 RCV002121835 SCV002444788 likely benign Polyglucosan body myopathy type 1 2024-10-29 criteria provided, single submitter clinical testing

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