ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.497G>C (p.Ser166Thr)

gnomAD frequency: 0.00049  dbSNP: rs540459171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553175 SCV001773995 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001553175 SCV002334969 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753364 SCV005347857 likely benign TRIOBP-related disorder 2024-08-11 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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