ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1936A>G (p.Met646Val) (rs145741748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130315 SCV000185165 likely benign Hereditary cancer-predisposing syndrome 2016-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000189851 SCV000243504 likely benign not specified 2016-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000403767 SCV000478219 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295067 SCV000478220 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464079 SCV000562485 benign Tuberous sclerosis 1 2017-11-28 criteria provided, single submitter clinical testing

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