Submissions for variant NM_001003841.3(SLC6A19):c.1017-4G>A

gnomAD frequency: 0.25295  dbSNP: rs35329108

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519773	SCV001728701	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807719	SCV002056609	benign	Neutral 1 amino acid transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000002099	SCV002056620	benign	Hyperglycinuria	2021-07-15	criteria provided, single submitter	clinical testing
Mendelics	RCV001530131	SCV002516665	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001807719	SCV004810100	benign	Neutral 1 amino acid transport defect	2024-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519773	SCV005304974	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000002098	SCV000022256	benign	Iminoglycinuria, digenic	2008-12-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530131	SCV001744821	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001530131	SCV001921339	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530131	SCV001927099	benign	not specified		no assertion criteria provided	clinical testing