ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1258-5G>T (rs925954967)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716880 SCV000847724 uncertain significance History of neurodevelopmental disorder 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Genetic Services Laboratory, University of Chicago RCV000502223 SCV000597594 uncertain significance not specified 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV000460314 SCV000556554 likely benign Tuberous sclerosis 2 2016-10-30 criteria provided, single submitter clinical testing

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