ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.2299-20A>C (rs17727583)

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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 RCV000248096 SCV000316946 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000600207 SCV000743770 benign Bardet-Biedl syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000600207 SCV000745173 benign Bardet-Biedl syndrome 1 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600207 SCV000734551 likely benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000600207 SCV000745832 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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