ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)

gnomAD frequency: 0.00030  dbSNP: rs55821172
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000373888 SCV000343905 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000373888 SCV001030261 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195467 SCV001365842 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu1951Leu in Exon 16 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3/6750 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs55821172).
GeneDx RCV000373888 SCV001787417 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930173 SCV004747061 likely benign TRIOBP-related disorder 2019-05-23 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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