ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=)

gnomAD frequency: 0.00047  dbSNP: rs138702943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428500 SCV000527413 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062791 SCV002482291 likely benign Achondrogenesis, type IA 2023-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902569 SCV004727626 likely benign TRIP11-related disorder 2023-08-03 criteria provided, single submitter 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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