ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) (rs1157060310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079246 SCV000641642 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572442 SCV000675392 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762583 SCV000892916 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing

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