ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)

gnomAD frequency: 0.00455  dbSNP: rs144634857
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Total submissions: 8
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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 RCV000036817 SCV000060472 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly131Ser in Exon 05 of TRIOBP: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (47/6930) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs144634857).
Eurofins Ntd Llc (ga) RCV000036817 SCV000230982 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036817 SCV000306101 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000713875 SCV000732317 benign not provided 2019-06-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713875 SCV000844515 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713875 SCV001102319 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713875 SCV004147849 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000713875 SCV005206418 likely benign not provided criteria provided, single submitter not provided

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