ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1644C>A (p.Ile548=)

gnomAD frequency: 0.00019  dbSNP: rs147111006
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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
Invitae RCV000652934 SCV000774806 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001571983 SCV001796551 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing

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