ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) (rs761347854)

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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 RCV000770980 SCV000897965 uncertain significance Deafness, autosomal recessive 86 2018-05-31 criteria provided, single submitter clinical testing This recessive variant was identified in two brothers diagnosed with profound bilateral hearing loss. Both patient harbours also a second variant (see above) in this gene in compound heterozygosity

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