ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1659+3A>G (rs6499838)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249845 SCV000314811 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249845 SCV000342675 benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094289 SCV000398053 likely benign Bardet-Biedl syndrome 2 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 allowed determination 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 RCV000428849 SCV000511263 benign not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000377426 SCV000636525 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709640 SCV000743748 benign Bardet-Biedl syndrome 1 2014-12-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709640 SCV000745152 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing

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