ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1482C>A (p.Pro494=)

dbSNP: rs2151058298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001700556 SCV001919907 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726657 SCV001963012 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726657 SCV001972435 likely benign not provided no assertion criteria provided clinical testing

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