ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.957G>A (p.Glu319=)

dbSNP: rs1427770703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Medical Center Freiburg RCV001289479 SCV001477348 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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