ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) (rs45473098)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477075 SCV000544317 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568240 SCV000675554 likely benign Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000043355 SCV000067161 not provided Tuberous sclerosis syndrome no assertion provided curation

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