ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.1657+1G>T (rs758568142)

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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 RCV000678036 SCV000803762 likely pathogenic Autosomal recessive congenital ichthyosis 4A 2018-08-13 no assertion criteria provided clinical testing The observed variant g.124093G>T (5'splice site) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease-causing by MutationTaster2.

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