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 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568811 SCV000675354 likely benign Hereditary cancer-predisposing syndrome 2019-01-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
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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