ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) (rs1567985822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Uitto Lab,Thomas Jefferson University RCV000782405 SCV000920926 likely pathogenic Autosomal recessive congenital ichthyosis 2 2018-06-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000782405 SCV001522026 uncertain significance Autosomal recessive congenital ichthyosis 2 2019-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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