ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln)

gnomAD frequency: 0.00147  dbSNP: rs181511246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552072 SCV000656163 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001591294 SCV001817393 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001591294 SCV002497431 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing COL12A1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003905467 SCV004726696 likely benign COL12A1-related condition 2021-05-04 criteria provided, single submitter 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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