ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002731174 SCV003015206 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing
GeneDx RCV002731174 SCV004025447 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; PMID: 25240749); This variant is associated with the following publications: (PMID: 25240749)

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