Submissions for variant NM_130849.4(SLC39A4):c.751= (p.Arg251=)

gnomAD frequency: 0.96739  dbSNP: rs2977838

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455209	SCV000540372	benign	not specified	2016-03-29	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: MAF
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515872	SCV001724041	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543987	SCV001762906	benign	Hereditary acrodermatitis enteropathica	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515872	SCV005269799	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000455209	SCV001742429	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000455209	SCV001930508	benign	not specified		no assertion criteria provided	clinical testing