ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.6888C>T (p.Gly2296=)

gnomAD frequency: 0.00234  dbSNP: rs200735300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968592 SCV001116054 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000968592 SCV001816339 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968592 SCV004154025 benign not provided 2023-10-01 criteria provided, single submitter clinical testing TRIO: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004553470 SCV004791906 likely benign TRIO-related disorder 2024-02-02 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).

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