ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)

gnomAD frequency: 0.00002  dbSNP: rs199677738
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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) RCV000733028 SCV000861041 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733028 SCV002365854 likely benign not provided 2024-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748947 SCV005352983 likely benign COL11A2-related disorder 2019-02-21 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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