ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-4C>G (rs45517406)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083059 SCV000285447 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253457 SCV000305241 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000576126 SCV000675607 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000233645 SCV001150723 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042619 SCV000066413 not provided Tuberous sclerosis syndrome no assertion provided curation

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