ClinVar Miner

Submissions for variant NC_000001.10:g.216144119_216591855del447737

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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 RCV000504108 SCV000598153 pathogenic Usher syndrome, type 2A 2016-11-08 criteria provided, single submitter clinical testing This heterozygous variant in the USH2A gene (autosomal recessive transmission), was present in a female patient with Usher syndrome who also harbours a second mutation in the same gene (compound heterozygosity).

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