ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2187G>C (p.Arg729=)

gnomAD frequency: 0.00032  dbSNP: rs551411073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842751 SCV000984782 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Invitae RCV000842751 SCV002390050 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938200 SCV004753379 likely benign COL11A2-related condition 2019-07-22 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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