ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.853T>G (p.Phe285Val) (rs377076733)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465974 SCV000552261 benign Tuberous sclerosis 1 2017-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568811 SCV000675354 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Tuberous sclerosis database (TSC1) RCV000054874 SCV000083089 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122199 SCV000086418 not provided not specified 2013-09-19 no assertion provided reference population

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