Submissions for variant NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys)

gnomAD frequency: 0.00402  dbSNP: rs113717209

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000280801	SCV000472581	benign	Hereditary acrodermatitis enteropathica	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970194	SCV001117761	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000280801	SCV001736764	benign	Hereditary acrodermatitis enteropathica	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000280801	SCV001806548	benign	Hereditary acrodermatitis enteropathica	2021-07-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000280801	SCV001461706	benign	Hereditary acrodermatitis enteropathica	2019-11-11	no assertion criteria provided	clinical testing