ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)

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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 Leipzig Medical Center RCV003388882 SCV004100748 pathogenic Tuberous sclerosis 2 2023-10-16 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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