Submissions for variant NM_152618.3(BBS12):c.1872A>G (p.Gln624=) (rs13102440)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000152835	SCV000202231	benign	not specified	2014-01-21	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000152835	SCV000316228	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001094786	SCV000447428	benign	Bardet-Biedl syndrome 12	2018-01-12	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	RCV000709664	SCV000744986	benign	Bardet-Biedl syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000264109	SCV001000475	benign	Bardet-Biedl syndrome	2019-12-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000709664	SCV000734321	benign	Bardet-Biedl syndrome 1		no assertion criteria provided	clinical testing