ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.849-1G>A (rs45506396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439973 SCV000516737 pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing The c.849-1 G>A splice site variant in the TSC2 gene has been reported previously in association withtuberous sclerosis (Choy et al., 1999). Thisvariant destroys the canonical splice acceptor site in intron 9,and is expected to cause abnormal gene splicing. Therefore, we interpret this variant to be pathogenic.
Tuberous sclerosis database (TSC2) RCV000042648 SCV000066443 not provided Tuberous sclerosis syndrome no assertion provided curation

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