ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.941A>C (p.Glu314Ala)

gnomAD frequency: 0.00028  dbSNP: rs137899554
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314418 SCV000847971 benign Inborn genetic diseases 2021-12-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001276384 SCV001717809 benign Ornithine carbamoyltransferase deficiency 2023-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276384 SCV002033201 uncertain significance Ornithine carbamoyltransferase deficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276384 SCV001462633 uncertain significance Ornithine carbamoyltransferase deficiency 2020-09-16 no assertion criteria provided clinical testing

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