ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)

gnomAD frequency: 0.00001  dbSNP: rs202239067
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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 RCV001521388 SCV001730726 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546521 SCV005041906 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003935546 SCV004750277 likely benign COL12A1-related disorder 2019-03-13 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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