ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.5939+4A>G (rs1131692156)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000494735 SCV000580670 likely pathogenic Autosomal recessive congenital ichthyosis 4B 2017-04-11 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genomes, ExAc and dbSNP databases. The in silico prediction of the variant is damaging by Mutation Taster2 software.

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