ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.186C>T (p.Pro62=) (rs35194418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242686 SCV000316604 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000470772 SCV000563611 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709682 SCV000744973 benign Bardet-Biedl syndrome 1 2017-06-28 criteria provided, single submitter clinical testing

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