ClinVar Miner

Submissions for variant NM_001354587.1(ANKRD36):c.2479-1G>A

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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 RCV001250406 SCV001337666 likely pathogenic Autosomal recessive nonsyndromic deafness 2019-07-06 no assertion criteria provided research Recessive, compound heterozygous with NM_001354587.1: 2589T>G; congenital, moderate-severe progressive SNHL

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