ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.906T>C (p.Phe302=)

gnomAD frequency: 0.95849  dbSNP: rs12914333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152839 SCV000202235 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
Invitae RCV000860196 SCV001000169 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553958 SCV001775081 benign Bardet-Biedl syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152839 SCV001744132 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152839 SCV001972678 benign not specified no assertion criteria provided clinical testing

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