ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe)

dbSNP: rs121434232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003576 SCV000023734 pathogenic Autosomal recessive congenital ichthyosis 3 2002-01-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000003576 SCV001477342 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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