ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.969C>T (p.Tyr323=)

gnomAD frequency: 0.00110  dbSNP: rs138895801
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180123 SCV000232503 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083247 SCV001019062 benign Ornithine aminotransferase deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000180123 SCV001820934 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083247 SCV001461353 likely benign Ornithine aminotransferase deficiency 2020-04-10 no assertion criteria provided clinical testing

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