ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2679C>T (p.Asp893=)

gnomAD frequency: 0.00002  dbSNP: rs747852589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490943 SCV001695518 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434279 SCV004159769 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003921030 SCV004743278 likely benign COL12A1-related disorder 2019-05-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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