ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2967-8C>T

gnomAD frequency: 0.00001  dbSNP: rs1060504085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462546 SCV000556480 likely benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002054 SCV004825437 likely benign Tuberous sclerosis syndrome 2023-12-18 criteria provided, single submitter clinical testing

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