ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2821_2825delinsCGG (p.Asn941fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004584258 SCV005068267 likely pathogenic Tuberous sclerosis 2 2024-07-02 criteria provided, single submitter clinical testing

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