ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg)

gnomAD frequency: 0.00304  dbSNP: rs202079450
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732730 SCV000860712 likely benign not specified 2018-04-18 criteria provided, single submitter clinical testing
GeneDx RCV001533928 SCV001750805 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29551606)
Labcorp Genetics (formerly Invitae), Labcorp RCV001533928 SCV002405282 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001533928 SCV004147854 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TRIOBP: BP4

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