ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2872+9G>A (rs76488338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506760 SCV000605104 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000458430 SCV000454534 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379797 SCV000454535 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458430 SCV000558062 benign Charcot-Marie-Tooth disease type 4 2017-12-19 criteria provided, single submitter clinical testing

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