ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1414A>G (p.Met472Val) (rs2277596)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132689 SCV000172642 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Invitae RCV000198615 SCV000253634 likely benign Bardet-Biedl syndrome 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246726 SCV000315045 likely benign not specified criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490439 SCV000267222 likely pathogenic Bardet-Biedl syndrome 4 2016-03-18 criteria provided, single submitter reference population

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