ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1872A>G (p.Gln624=) (rs13102440)

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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 RCV000709664 SCV000744986 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709664 SCV000734321 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152835 SCV000202231 benign not specified 2014-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264109 SCV000447428 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152835 SCV000316228 benign not specified criteria provided, single submitter clinical testing

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