ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.199+19C>T

gnomAD frequency: 0.27706  dbSNP: rs10794058
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520133 SCV001729166 benign Ornithine aminotransferase deficiency 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520133 SCV001754984 benign Ornithine aminotransferase deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001685401 SCV001900069 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685401 SCV005322488 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529582 SCV001743257 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529582 SCV001951796 benign not specified no assertion criteria provided clinical testing

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