ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)

gnomAD frequency: 0.00091  dbSNP: rs201843208
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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 RCV000825252 SCV000966537 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser121Ser in Exon 05 of TRIOBP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (7/3518) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV000906640 SCV001051291 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000906640 SCV001803063 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965607 SCV004779935 likely benign TRIOBP-related condition 2020-03-17 criteria provided, single submitter 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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