ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)

gnomAD frequency: 0.00004  dbSNP: rs771078518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904864 SCV001049412 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001569935 SCV001794107 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001569935 SCV003832851 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing

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