ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu)

dbSNP: rs1567981916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706838 SCV001934363 uncertain significance Autosomal recessive congenital ichthyosis 2 2020-09-04 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_001139.2:c.1272dup.

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