ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1333+5A>G (rs118203515)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233376 SCV000284674 benign Tuberous sclerosis 1 2017-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572018 SCV000675363 likely benign Hereditary cancer-predisposing syndrome 2017-09-27 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),Other data supporting benign classification
Tuberous sclerosis database (TSC1) RCV000042012 SCV000065794 not provided Tuberous sclerosis syndrome no assertion provided curation

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