ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)

dbSNP: rs1296095311
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Uitto Lab, Thomas Jefferson University RCV000782397 SCV000920918 likely pathogenic Autosomal recessive congenital ichthyosis 2 2018-06-08 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV001289504 SCV001477376 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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