Submissions for variant NM_054012.4(ASS1):c.597+18A>G

gnomAD frequency: 0.77461  dbSNP: rs652313

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078022	SCV000109860	benign	not specified	2018-04-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078022	SCV000301641	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000611391	SCV001472129	benign	Citrullinemia type I	2021-10-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510054	SCV001716990	benign	Citrullinemia	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000611391	SCV001748481	benign	Citrullinemia type I	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668183	SCV001886061	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668183	SCV005323414	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611391	SCV000734650	benign	Citrullinemia type I		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078022	SCV001920757	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000611391	SCV002085080	benign	Citrullinemia type I	2018-04-09	no assertion criteria provided	clinical testing