ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)

gnomAD frequency: 0.51612  dbSNP: rs2280838
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330943 SCV000472590 benign Hereditary acrodermatitis enteropathica 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454589 SCV000540374 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: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001515874 SCV001724043 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000330943 SCV001762910 benign Hereditary acrodermatitis enteropathica 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001515874 SCV001856830 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515874 SCV005269807 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000330943 SCV001457108 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing

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