ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3523dup (p.Val1175fs)

dbSNP: rs2151459858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542790 SCV001760368 likely pathogenic Tuberous sclerosis 2 no assertion criteria provided clinical testing

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