ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr)

gnomAD frequency: 0.00001  dbSNP: rs1197603391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001289525 SCV005920919 uncertain significance Autosomal recessive congenital ichthyosis 2 2022-12-12 criteria provided, single submitter research
Institute for Human Genetics, University Medical Center Freiburg RCV001289525 SCV001477399 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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