ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4892+10del

dbSNP: rs794727098
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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) RCV000174533 SCV000225848 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516633 SCV003517821 benign Achondrogenesis, type IA 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955026 SCV004768283 likely benign TRIP11-related disorder 2020-01-23 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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