ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.775-3C>G

dbSNP: rs397514909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003231114 SCV003929589 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Also known as IVS7-3C>G; In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28643795, 32461669)
Tuberous sclerosis database (TSC2) RCV000055083 SCV000083301 not provided Tuberous sclerosis syndrome no assertion provided curation

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