ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val)

gnomAD frequency: 0.00002  dbSNP: rs758399765
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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 RCV002042278 SCV002108010 benign Bethlem myopathy 1A 2022-08-22 criteria provided, single submitter clinical testing

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