ClinVar Miner

Submissions for variant NC_000015.9:g.(43851199_43890391)_(?_44038820)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001806224 SCV001745844 pathogenic Autosomal recessive nonsyndromic hearing loss 16 2020-09-07 criteria provided, single submitter clinical testing This patient harbours in compound heterozygosity a non-sense variant in STRC and a deletion encompassing CKMT1B, STRC (and maybe CATSPER2) genes. These two variants explain the phenotype of the patient.

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