ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys)

gnomAD frequency: 0.00003  dbSNP: rs756352775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576375 SCV001803544 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV001576375 SCV002271231 benign not provided 2023-07-25 criteria provided, single submitter clinical testing

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