ClinVar Miner

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

gnomAD frequency: 0.01007  dbSNP: rs17727583
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000600207 SCV000745173 benign Bardet-Biedl syndrome 1 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001516343 SCV001724612 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500938 SCV002806482 likely benign Bardet-Biedl syndrome 9 2021-08-04 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, Amsterdam University Medical Center RCV000600207 SCV000745832 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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