ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.2992G>A (p.Ala998Thr)

gnomAD frequency: 0.00064  dbSNP: rs200019928
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678297 SCV001895681 benign not provided 2018-11-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326)
Labcorp Genetics (formerly Invitae), Labcorp RCV001678297 SCV003284306 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001678297 SCV004147858 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001678297 SCV005277290 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004753380 SCV005350492 likely benign TRIOBP-related disorder 2024-09-11 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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