ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)

gnomAD frequency: 0.00079  dbSNP: rs147202936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000287149 SCV000332376 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
Invitae RCV000287149 SCV001059794 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000287149 SCV001803803 likely benign not provided 2020-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955432 SCV004766576 likely benign COL2A1-related condition 2019-08-01 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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