ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) (rs17722227)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128034 SCV000336404 benign not specified 2015-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000128034 SCV000171625 benign not specified 2014-02-20 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 RCV000474488 SCV000454567 likely benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321819 SCV000454568 likely benign Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474488 SCV000558067 benign Charcot-Marie-Tooth disease type 4 2017-08-09 criteria provided, single submitter clinical testing

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