ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1890+16G>A

gnomAD frequency: 0.40768  dbSNP: rs1507994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246850 SCV000316605 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601162 SCV000744971 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001520353 SCV001729423 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001723863 SCV001949777 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601162 SCV000734316 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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