ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) (rs1432793)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118334 SCV000314346 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294956 SCV000454573 likely benign Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333654 SCV000454574 likely benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118334 SCV000854883 benign not specified 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000860090 SCV001000012 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118334 SCV000152729 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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