ClinVar Miner

Submissions for variant GRCh38/hg38 2q23.1(chr2:148198092-148263296)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur RCV004557295 SCV005043341 uncertain significance Intellectual disability, autosomal dominant 1 no assertion criteria provided clinical testing - deletion of non coding exon - Overlap with established HI sensitive gene - phenotype of patient does not match MRD1 characteristics - does not segregate with the disease (CNV is inherited from apparently unaffected parent and grand parent)

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