ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) (rs137854103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571827 SCV000675780 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Tuberous sclerosis database (TSC2) RCV000042961 SCV000066758 not provided Tuberous sclerosis syndrome no assertion provided curation

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