ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1443+4C>T (rs45517172)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189887 SCV000243543 benign not specified 2014-11-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000234711 SCV000285244 benign Tuberous sclerosis 2 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565280 SCV000675485 likely benign Hereditary cancer-predisposing syndrome 2017-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000043007 SCV000066805 not provided Tuberous sclerosis syndrome no assertion provided curation

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