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: 5
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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).
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV000906640 SCV005206417 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003965607 SCV004779935 likely benign TRIOBP-related disorder 2020-03-17 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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