ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4493+7C>A (rs199943270)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082080 SCV000285407 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249888 SCV000305223 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000249888 SCV000615910 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727250 SCV000706969 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727250 SCV001150720 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing

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