ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg)

dbSNP: rs1977007343
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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 RCV001289509 SCV001477381 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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