ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) (rs371961155)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723627 SCV000113836 uncertain significance not provided 2013-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000382355 SCV000897407 uncertain significance Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081901 SCV000597884 uncertain significance not specified 2015-10-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382355 SCV000470805 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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