ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)

gnomAD frequency: 0.00776  dbSNP: rs117038107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557181 SCV000656186 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001573794 SCV001868836 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573794 SCV002497430 benign not provided 2024-05-01 criteria provided, single submitter clinical testing COL12A1: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573794 SCV001800172 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573794 SCV001809721 likely benign not provided no assertion criteria provided clinical testing

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