ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1961del (p.Gly654fs)

dbSNP: rs2543694566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV002286515 SCV002576493 pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing

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