ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)

dbSNP: rs1599083635
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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 RCV001004796 SCV001164283 pathogenic Autosomal recessive nonsyndromic hearing loss 77 2020-12-31 criteria provided, single submitter research Recessive, compound heterozygous with NM_144612.6:c.4714C>T; Childhood onset, moderate-profound, progressive NSHL

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