Submissions for variant NM_054012.4(ASS1):c.364-6T>C

gnomAD frequency: 0.00881  dbSNP: rs116103138

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245472	SCV000301638	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403809	SCV000477621	likely benign	Citrullinemia type I	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000245472	SCV000521834	benign	not specified	2016-06-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507198	SCV000630047	benign	Citrullinemia	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000403809	SCV001156618	benign	Citrullinemia type I	2023-08-07	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000403809	SCV002085066	likely benign	Citrullinemia type I	2017-05-05	no assertion criteria provided	clinical testing