ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys)

gnomAD frequency: 0.00020  dbSNP: rs200113910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607520 SCV000713492 benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Arg1576Cys in exon 9 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.67% (123/18784) of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs200113910).
Labcorp Genetics (formerly Invitae), Labcorp RCV000923126 SCV001068589 likely benign not provided 2023-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000923126 SCV001778651 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945461 SCV004762076 likely benign TRIOBP-related disorder 2020-02-18 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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