ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)

gnomAD frequency: 0.00203  dbSNP: rs140528529
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Total submissions: 9
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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 RCV000154655 SCV000204331 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing p.Ala1863Val in exon 15 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.33% (220/66206) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140528529).
Eurofins Ntd Llc (ga) RCV000154655 SCV000855390 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969975 SCV001117527 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000969975 SCV001146241 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000969975 SCV001828703 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969975 SCV004147867 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TRIOBP: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000969975 SCV005206436 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003937443 SCV004760900 likely benign TRIOBP-related disorder 2020-01-10 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).
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004567177 SCV005049932 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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