ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=)

gnomAD frequency: 0.01132  dbSNP: rs34619869
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250872 SCV000310278 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000554496 SCV000656180 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610646 SCV001839508 benign not provided 2019-08-26 criteria provided, single submitter clinical testing

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