ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)

dbSNP: rs45517214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013207 SCV000033454 pathogenic Tuberous sclerosis 2 1999-02-19 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000042452 SCV000066243 not provided Tuberous sclerosis syndrome no assertion provided curation

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