ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) (rs116262072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152847 SCV000202243 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
Invitae RCV000463844 SCV000563567 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709680 SCV000745171 likely benign Bardet-Biedl syndrome 1 2016-02-04 criteria provided, single submitter clinical testing

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