ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.225+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV004556116 SCV005045221 pathogenic Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing PVS1,PS4_Supporting,PM2,PP4

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