ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1970-13G>A

gnomAD frequency: 0.00014  dbSNP: rs369943351
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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 RCV002160933 SCV002470624 likely benign Bethlem myopathy 1A 2024-11-13 criteria provided, single submitter clinical testing

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