ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)

gnomAD frequency: 0.02971  dbSNP: rs7823979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269123 SCV000472572 likely benign Hereditary acrodermatitis enteropathica 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430233 SCV000511220 benign not provided 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000430233 SCV001103463 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000430233 SCV005222386 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000269123 SCV001452040 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing

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