ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)

gnomAD frequency: 0.43646  dbSNP: rs2272662
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305246 SCV000472567 benign Hereditary acrodermatitis enteropathica 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454515 SCV000540371 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 RCV001520476 SCV001729581 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305246 SCV001762905 benign Hereditary acrodermatitis enteropathica 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001520476 SCV001857256 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000305246 SCV002809178 benign Hereditary acrodermatitis enteropathica 2022-02-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520476 SCV005269798 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000305246 SCV001452038 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000454515 SCV001739538 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000454515 SCV001958231 benign not specified no assertion criteria provided clinical testing

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