ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=)

gnomAD frequency: 0.00006  dbSNP: rs111328076
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426542 SCV001629199 likely benign Bethlem myopathy 1A 2024-10-29 criteria provided, single submitter clinical testing

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