ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) (rs144873879)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710218 SCV000615249 likely benign not provided 2018-04-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710218 SCV000891789 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710218 SCV000706121 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000419130 SCV000514625 benign not specified 2015-05-15 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 RCV000555131 SCV000454510 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333938 SCV000454511 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555131 SCV000657929 benign Charcot-Marie-Tooth disease type 4 2017-12-19 criteria provided, single submitter clinical testing

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