ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)

gnomAD frequency: 0.00103  dbSNP: rs371949188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533365 SCV000656204 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001564217 SCV001787344 likely benign not provided 2019-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952879 SCV004768811 likely benign COL12A1-related disorder 2022-12-08 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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