ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) (rs376894444)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411434 SCV000485484 likely pathogenic Bardet-Biedl syndrome 1 2015-12-23 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074216 SCV001239789 pathogenic Retinal dystrophy 2019-04-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092069 SCV001248422 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504813 SCV000598858 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV000504813 SCV001160903 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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