ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4510A>G (p.Arg1504Gly)

gnomAD frequency: 0.00022  dbSNP: rs374991119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906887 SCV001051552 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000906887 SCV001778792 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950670 SCV004760134 benign TRIOBP-related disorder 2020-03-27 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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