ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) (rs769527912)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462321 SCV000544315 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715993 SCV000846826 uncertain significance History of neurodevelopmental disorder 2019-11-06 criteria provided, single submitter clinical testing Insufficient evidence

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