ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)

gnomAD frequency: 0.00015  dbSNP: rs200901687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001980994 SCV002284276 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146461 SCV003833308 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing
GeneDx RCV003146461 SCV003840519 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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