ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.2632+9C>A (rs148654647)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253416 SCV000316950 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625097 SCV000743772 benign Bardet-Biedl syndrome 1 2014-12-15 criteria provided, single submitter clinical testing
Invitae RCV000862799 SCV001003353 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625097 SCV000745834 likely benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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