ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) (rs201769220)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211466 SCV000212203 uncertain significance Tuberous sclerosis syndrome 2015-03-11 criteria provided, single submitter research
Invitae RCV000542869 SCV000644317 benign not provided 2019-01-25 criteria provided, single submitter clinical testing

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