ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)

gnomAD frequency: 0.00037  dbSNP: rs144966407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001474179 SCV001678347 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001474179 SCV001789305 uncertain significance not provided 2021-11-08 criteria provided, single submitter clinical testing 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 (Acke et al., 2014; Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004533828 SCV004727184 likely benign COL11A1-related disorder 2024-02-02 criteria provided, single submitter 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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