ClinVar Miner

Submissions for variant NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)

gnomAD frequency: 0.00001  dbSNP: rs534494159
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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 RCV001250407 SCV001337667 likely pathogenic Hearing loss, autosomal recessive 2019-07-06 no assertion criteria provided research Recessive, compound heterozygous with NM_001354587.1: c.2479(-1)G>A; congenital, moderate-severe progressive SNHL

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