ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1340-2A>G

dbSNP: rs113994180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000020904 SCV003915857 likely pathogenic Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989297 SCV004806351 uncertain significance Bardet-Biedl syndrome 1 2024-03-25 criteria provided, single submitter clinical testing
GeneReviews RCV000020904 SCV000041506 pathologic Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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