ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln)

dbSNP: rs137853024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006457 SCV000026640 pathogenic Autosomal recessive congenital ichthyosis 2 2002-01-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000006457 SCV001477929 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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