ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp)

gnomAD frequency: 0.00003  dbSNP: rs559401066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586112 SCV001813910 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31953843, 31168818, 31046801)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001289921 SCV005418517 likely pathogenic Autosomal recessive congenital ichthyosis 2 criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4
Fulgent Genetics, Fulgent Genetics RCV001289921 SCV005652822 likely pathogenic Autosomal recessive congenital ichthyosis 2 2024-02-02 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV001289921 SCV001477923 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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