ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) (rs309370)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709668 SCV000744976 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709668 SCV000734317 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152830 SCV000202226 benign not specified 2014-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320946 SCV000447412 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152830 SCV000316215 benign not specified criteria provided, single submitter clinical testing

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