Submissions for variant NM_000531.6(OTC):c.140A>C (p.Asn47Thr)

gnomAD frequency: 0.00011  dbSNP: rs67939655

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454814	SCV000539982	uncertain significance	not specified	2016-06-23	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband
Invitae	RCV000148720	SCV001419035	benign	Ornithine carbamoyltransferase deficiency	2024-01-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000148720	SCV002033205	uncertain significance	Ornithine carbamoyltransferase deficiency	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945033	SCV004762875	likely benign	OTC-related condition	2022-08-10	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).
GenMed Metabolism Lab	RCV000083340	SCV000115426	pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Pathogenic.
CSER _CC_NCGL, University of Washington	RCV000148720	SCV000190452	uncertain significance	Ornithine carbamoyltransferase deficiency	2014-06-01	no assertion criteria provided	research
Natera, Inc.	RCV000148720	SCV002087162	uncertain significance	Ornithine carbamoyltransferase deficiency	2020-02-25	no assertion criteria provided	clinical testing