ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)

gnomAD frequency: 0.00001  dbSNP: rs1332978347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872967 SCV002138560 likely benign Tuberous sclerosis 1 2023-09-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009238 SCV004835371 uncertain significance Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing

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