ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2742+5G>C

dbSNP: rs397515076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002463881 SCV002754505 pathogenic Tuberous sclerosis 2 2022-11-25 criteria provided, single submitter clinical testing

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