ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)

dbSNP: rs780420901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414766 SCV000492858 pathogenic Ichthyosis 2015-06-22 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV001289513 SCV001477387 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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