ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg)

dbSNP: rs997331401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463274 SCV000556663 likely benign Tuberous sclerosis 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001591113 SCV001825878 likely benign not provided 2021-07-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26703369, 21624971, 24728327)
Genome-Nilou Lab RCV000463274 SCV002039382 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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