ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.2724G>A (p.Ser908=)

gnomAD frequency: 0.00303  dbSNP: rs12160218
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567283 SCV001790939 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001567283 SCV002467005 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001567283 SCV004147857 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001567283 SCV005206428 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948606 SCV004762227 benign TRIOBP-related disorder 2021-02-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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