ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)

gnomAD frequency: 0.00125  dbSNP: rs200646131
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555051 SCV000656203 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001561722 SCV001784373 uncertain significance not provided 2024-09-23 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
PreventionGenetics, part of Exact Sciences RCV003905470 SCV004720963 likely benign COL12A1-related disorder 2022-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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