ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1422G>A (p.Ser474=) (rs117033008)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174411 SCV000225706 benign not specified 2015-02-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174411 SCV000314809 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094291 SCV000398057 uncertain significance Bardet-Biedl syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000174411 SCV000593599 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000279525 SCV000636524 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709677 SCV000745154 likely benign Bardet-Biedl syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709677 SCV000745822 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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