ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.-366A>G

gnomAD frequency: 0.00354  dbSNP: rs191615506
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616225 SCV000730217 likely benign not specified 2017-10-23 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 RCV000634849 SCV000756198 benign Ornithine carbamoyltransferase deficiency 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000634849 SCV002799425 likely benign Ornithine carbamoyltransferase deficiency 2022-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334019 SCV004042389 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing OTC: BS1
PreventionGenetics, part of Exact Sciences RCV003917964 SCV004737082 likely benign OTC-related disorder 2022-02-19 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).
Natera, Inc. RCV000634849 SCV002087158 benign Ornithine carbamoyltransferase deficiency 2019-12-09 no assertion criteria provided clinical testing

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