ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)

gnomAD frequency: 0.00041  dbSNP: rs199724285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652929 SCV000774801 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001775942 SCV002013429 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Revvity Omics, Revvity RCV001775942 SCV003833349 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing

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