ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1685-117A>G

gnomAD frequency: 0.43486  dbSNP: rs2289587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549120 SCV001769216 benign Autosomal recessive congenital ichthyosis 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694094 SCV001913371 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694094 SCV005251607 benign not provided criteria provided, single submitter not provided

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