ClinVar Miner

Submissions for variant NM_016366.3(CABP2):c.490-8C>A

dbSNP: rs776117741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002271960 SCV002553195 likely pathogenic Autosomal recessive nonsyndromic hearing loss 93 2021-04-02 criteria provided, single submitter case-control The WES analysis identified a splice site mutation in the CABP2 gene on chromosome11 (NM_016366.3); chr11:67519948G/T c.490-8C>A. The mutation was predicted to be likely pathogenic based on ACMG guidelines . Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.

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