ClinVar Miner

Submissions for variant NM_002541.4(OGDH):c.2988C>T (p.Thr996=)

gnomAD frequency: 0.03821  dbSNP: rs61756583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001512634 SCV001720082 benign Oxoglutaricaciduria 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980302 SCV004798856 benign OGDH-related disorder 2019-12-12 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676720 SCV000802520 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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