ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)

gnomAD frequency: 0.00116  dbSNP: rs201681832
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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) RCV000179803 SCV000232111 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000179803 SCV002104345 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179803 SCV002446933 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947530 SCV004759920 likely benign TRIOBP-related disorder 2023-08-28 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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