ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)

gnomAD frequency: 0.02765  dbSNP: rs117535951
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365601 SCV000472588 likely benign Hereditary acrodermatitis enteropathica 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455228 SCV000540375 likely 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 in 1000Genomes: 44/2178=2%
SIB Swiss Institute of Bioinformatics RCV000365601 SCV000803491 benign Hereditary acrodermatitis enteropathica 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Acrodermatitis enteropathica, zinc-deficiency type, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 =>Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515966 SCV001724155 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000365601 SCV001762908 benign Hereditary acrodermatitis enteropathica 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001515966 SCV001862164 benign not provided 2020-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28188634, 27884173, 12032886, 20981092, 22995991)
Breakthrough Genomics, Breakthrough Genomics RCV001515966 SCV005222920 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000365601 SCV002083130 benign Hereditary acrodermatitis enteropathica 2019-10-25 no assertion criteria provided clinical testing

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