ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)

gnomAD frequency: 0.00002  dbSNP: rs751952844
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234184 SCV001406816 benign Bethlem myopathy 1A 2023-03-01 criteria provided, single submitter clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002295336 SCV002553246 uncertain significance Dystonia 27 2022-03-01 criteria provided, single submitter clinical testing

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