ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)

gnomAD frequency: 0.00379  dbSNP: rs199646135
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Total submissions: 7
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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 RCV000152130 SCV000200822 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro89Ala in Exon 05 of TRIOBP: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (54/6636) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000152130 SCV000230983 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000955605 SCV000730247 benign not provided 2018-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000955605 SCV001102318 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955605 SCV002544727 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS1
Fulgent Genetics, Fulgent Genetics RCV002478433 SCV002802751 likely benign Autosomal recessive nonsyndromic hearing loss 28 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955605 SCV005206416 likely benign not provided criteria provided, single submitter not provided

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