ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5156C>G (p.Ala1719Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004762836 SCV005373083 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Labcorp Genetics (formerly Invitae), Labcorp RCV004762836 SCV005705768 benign not provided 2024-02-09 criteria provided, single submitter clinical testing

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