ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) (rs1060499676)

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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	RCV000449506	SCV000537755	pathogenic	Tuberous sclerosis 2	2016-09-14	criteria provided, single submitter	clinical testing

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