ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1977G>A (p.Ala659=) (rs35958226)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163606 SCV000214170 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487765 SCV000575601 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125630 SCV000707717 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000125630 SCV000169089 benign not specified 2013-04-18 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 RCV000282322 SCV000478217 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349110 SCV000478218 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206688 SCV000261450 benign Tuberous sclerosis 1 2018-01-24 criteria provided, single submitter clinical testing

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