ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)

gnomAD frequency: 0.00001  dbSNP: rs776541842
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884205 SCV002153471 likely benign Tuberous sclerosis 2 2023-06-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804283 SCV005428362 uncertain significance Tuberous sclerosis syndrome 2024-09-23 criteria provided, single submitter clinical testing

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