ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.54G>C (p.Met18Ile) (rs940292214)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756827 SCV000552300 benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571184 SCV000675383 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756827 SCV000884751 uncertain significance not provided 2017-12-18 criteria provided, single submitter clinical testing

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