ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1946+2T>C

dbSNP: rs397515247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tuberous sclerosis database (TSC2) RCV000055559 SCV000083783 not provided Tuberous sclerosis syndrome no assertion provided curation
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV001580377 SCV001810066 not provided not provided no assertion provided in vivo

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