ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2098645)_(2130379_2131595)del

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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 RCV000449513 SCV000537704 pathogenic Tuberous sclerosis 2 2016-06-30 criteria provided, single submitter clinical testing

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