ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) (rs549612492)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227059 SCV000285299 benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277301 SCV000395612 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000277301 SCV000503566 uncertain significance Tuberous sclerosis syndrome 2016-08-01 no assertion criteria provided research Found in patient having exome sequencing for an unrelated indication. No known history of Tuberous sclerosis complex.

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