ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)

gnomAD frequency: 0.00001  dbSNP: rs370952607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203584 SCV001374757 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001751375 SCV002007756 uncertain significance not provided 2020-02-19 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
Revvity Omics, Revvity Omics RCV001751375 SCV004235374 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing

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