ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2928G>A (p.Gly976=)

gnomAD frequency: 0.00013  dbSNP: rs147004824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218959 SCV000270081 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing p.Gly976Gly in exon 40 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 10/19488 Africa n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs147004824).
GeneDx RCV001722156 SCV000721445 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing
Invitae RCV001722156 SCV002370936 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929886 SCV004744252 likely benign COL11A2-related condition 2020-02-14 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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