ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) (rs606231137)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433738 SCV000511853 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709632 SCV000743768 pathogenic Bardet-Biedl syndrome 1 2016-01-06 criteria provided, single submitter clinical testing
Invitae RCV000614851 SCV000832371 pathogenic Bardet-Biedl syndrome 2019-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys626Argfs*22) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774006614, ExAC 0.01%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16380913). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2662). Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002781 SCV000022939 pathogenic Bardet-Biedl syndrome 9 2005-12-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709632 SCV000734550 pathogenic Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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