ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)

dbSNP: rs1596418520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV002287848 SCV002577749 pathogenic Tuberous sclerosis 2 2022-10-07 criteria provided, single submitter clinical testing

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