ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)

gnomAD frequency: 0.03206  dbSNP: rs35520756
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243662 SCV000314364 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243662 SCV000336022 benign not specified 2015-10-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000988580 SCV000373265 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000436346 SCV000510963 benign not provided 2016-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029405 SCV000636512 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000243662 SCV000699517 benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000988580 SCV001138352 likely benign Bardet-Biedl syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000988580 SCV001573508 benign Bardet-Biedl syndrome 1 2021-04-08 criteria provided, single submitter research The BBS1 c.700G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BS1, BS2. Based on this evidence we have classified this variant as Benign.
GeneDx RCV000436346 SCV001869034 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12567324, 20498079, 27894351, 29191167, 20981092, 27884173)
Breakthrough Genomics, Breakthrough Genomics RCV000436346 SCV005214336 likely benign not provided criteria provided, single submitter not provided
OMIM RCV004562203 SCV000033172 pathogenic Bardet-Biedl syndrome 1/7, digenic 2003-03-01 no assertion criteria provided literature only
Natera, Inc. RCV000988580 SCV001454313 benign Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing

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