ClinVar Miner

Submissions for variant NC_000016.10:g.1903155_2093402del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002267197 SCV002549153 pathogenic Tuberous sclerosis 2 2022-07-17 criteria provided, single submitter clinical testing TSC2/PKD1 contiguous gene deletion syndrome.

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