ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)

dbSNP: rs558383133
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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 RCV002064875 SCV002407732 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-10-26 criteria provided, single submitter clinical testing
GeneDx RCV004761844 SCV005372429 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003967939 SCV004783578 likely benign COL12A1-related disorder 2023-03-28 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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