ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)

gnomAD frequency: 0.00651  dbSNP: rs116964444
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728068 SCV000855594 benign not specified 2017-07-21 criteria provided, single submitter clinical testing
GeneDx RCV001541041 SCV001758991 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001541041 SCV002446486 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001541041 SCV002496742 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001541041 SCV005206421 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918184 SCV004736834 benign TRIOBP-related disorder 2020-03-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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