ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.965C>T (p.Ala322Val)

gnomAD frequency: 0.00053  dbSNP: rs145588841
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550683 SCV001771053 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550683 SCV002404504 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001550683 SCV005206419 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948585 SCV004765202 benign TRIOBP-related disorder 2020-01-20 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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