ClinVar Miner

Submissions for variant NM_002541.4(OGDH):c.39A>C (p.Pro13=)

dbSNP: rs34777281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082748 SCV001107508 benign Oxoglutaricaciduria 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676713 SCV004156853 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing OGDH: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003907938 SCV004736044 benign OGDH-related condition 2019-11-01 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 RCV000676713 SCV000802513 likely benign not provided 2016-02-26 no assertion criteria provided clinical testing

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