ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1413A>C (p.Val471=) (rs35294865)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082284 SCV000114233 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
Invitae RCV000205379 SCV000259776 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082284 SCV000314808 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094292 SCV000398058 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709676 SCV000745155 likely benign Bardet-Biedl syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709676 SCV000745823 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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