ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser)

gnomAD frequency: 0.00002  dbSNP: rs774823793
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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) RCV000179396 SCV000231638 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000884845 SCV001028247 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000884845 SCV001796920 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955081 SCV004773375 likely benign COL9A3-related condition 2021-07-12 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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