ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)

gnomAD frequency: 0.00776  dbSNP: rs77425231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245630 SCV000310274 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000548099 SCV000656171 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001539548 SCV001757335 benign not provided 2019-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001539548 SCV002563911 benign not provided 2024-05-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV000548099 SCV002806630 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-11-11 criteria provided, single submitter clinical testing

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