ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5052G>T (p.Thr1684=)

gnomAD frequency: 0.00539  dbSNP: rs41283241
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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 RCV000036825 SCV000060480 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr1684Thr in Exon 09 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.0% (67/6622) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs41283241).
GeneDx RCV001697029 SCV000717845 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV001697029 SCV002422207 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697029 SCV004147864 benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BP7, BS1, BS2

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