ClinVar Miner

Submissions for variant NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup

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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 RCV000449507 SCV000537692 pathogenic Progressive familial intrahepatic cholestasis 4 2016-07-12 criteria provided, single submitter clinical testing This heterozygous variant in the TJP2 gene (autosomal recessive transmission), inherited from the father, is present in a female patient who also harbours a missense variant in a splicing site in the same gene (see below)(compound heterozygosity). This patient also has a nonsense variant in the PKD2 gene.

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