ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)

dbSNP: rs765920708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771815 SCV002011759 likely pathogenic Bardet-Biedl syndrome 19 2021-06-09 no assertion criteria provided clinical testing

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