ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) (rs17795193)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000420321 SCV000615243 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000420321 SCV000514622 benign not specified 2016-02-16 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 RCV000370361 SCV000454543 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229675 SCV000454544 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229675 SCV000290775 benign Charcot-Marie-Tooth disease type 4 2017-12-14 criteria provided, single submitter clinical testing

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