ClinVar Miner

Submissions for variant NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)

gnomAD frequency: 0.00001  dbSNP: rs1391730624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV001250409 SCV001337669 pathogenic Autosomal recessive nonsyndromic hearing loss 93 2019-07-06 no assertion criteria provided research Recessive, compound heterozygous with NM_001318496.1: c.655(+1)G>T; congenital, variable SNHL

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