ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) (rs776386313)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532158 SCV000641560 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567937 SCV000675431 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Mendelics RCV000988275 SCV001137932 uncertain significance Tuberous sclerosis 1 2019-05-28 criteria provided, single submitter clinical testing

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