ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)

gnomAD frequency: 0.00001  dbSNP: rs1028050037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123321 SCV001282145 uncertain significance Autosomal recessive congenital ichthyosis 2 2017-04-27 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Human Genetics, University Medical Center Freiburg RCV001123321 SCV001477964 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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