ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)

gnomAD frequency: 0.00001  dbSNP: rs578252411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521460 SCV001730809 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001558785 SCV001780802 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948551 SCV004758817 benign COL12A1-related disorder 2019-11-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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