ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)

gnomAD frequency: 0.00283  dbSNP: rs186035636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551850 SCV000656174 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001591296 SCV001822351 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001591296 SCV002821389 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7

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