ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2568C>G (p.Leu856=)

gnomAD frequency: 0.00001  dbSNP: rs886038354
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242158 SCV000305181 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001399757 SCV001601555 likely benign Tuberous sclerosis 2 2023-08-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001399757 SCV002039217 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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