ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser)

dbSNP: rs121434234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003578 SCV000023736 pathogenic Autosomal recessive congenital ichthyosis 3 2002-01-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000003578 SCV001477346 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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