ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.831-5C>T

gnomAD frequency: 0.00285  dbSNP: rs56177555
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082205 SCV000114154 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082205 SCV000314367 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082205 SCV000593580 likely benign not specified 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000861255 SCV001001515 benign Bardet-Biedl syndrome 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104146 SCV001260987 uncertain significance Bardet-Biedl syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002513848 SCV003549503 likely benign Inborn genetic diseases 2022-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001104146 SCV001454317 benign Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573960 SCV001800584 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573960 SCV001971586 likely benign not provided no assertion criteria provided clinical testing

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