ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala)

gnomAD frequency: 0.00001  dbSNP: rs560019202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002075032 SCV002373031 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002075032 SCV004185033 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing COL11A1: BP4
PreventionGenetics, part of Exact Sciences RCV004543763 SCV004788137 likely benign COL11A1-related disorder 2023-04-20 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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