ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)

gnomAD frequency: 0.00026  dbSNP: rs368321891
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532598 SCV000656207 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001571666 SCV001796178 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001571666 SCV004159752 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001571666 SCV001807369 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001571666 SCV001931711 likely benign not provided no assertion criteria provided clinical testing

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