ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) (rs2275155)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253187 SCV000311541 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253187 SCV000341995 benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259930 SCV000356819 benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319736 SCV000356820 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608817 SCV000734017 benign Senior-Loken syndrome 7 no assertion criteria provided clinical testing

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