ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg)

gnomAD frequency: 0.00001  dbSNP: rs752051700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330369 SCV001522022 uncertain significance Autosomal recessive congenital ichthyosis 2 2019-10-04 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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