ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro)

gnomAD frequency: 0.00030  dbSNP: rs138840811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650757 SCV001870867 benign not provided 2019-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001650757 SCV004154013 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TRIO: BS2
Revvity Omics, Revvity RCV001650757 SCV004236945 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551961 SCV004772782 likely benign TRIO-related disorder 2019-07-15 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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