ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) (rs35676114)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576464 SCV000677141 benign Bardet-Biedl syndrome 10 2017-06-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152825 SCV000202221 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270164 SCV000381147 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000270164 SCV000556951 benign Bardet-Biedl syndrome 2017-01-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152825 SCV000314382 benign not specified criteria provided, single submitter clinical testing

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