ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)

gnomAD frequency: 0.00002  dbSNP: rs755517458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349535 SCV000341325 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000349535 SCV002228089 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535387 SCV004710993 likely benign COL2A1-related disorder 2023-07-06 no assertion criteria provided 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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