ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)

dbSNP: rs2151164702
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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 RCV002267202 SCV002549154 pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing

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