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

gnomAD frequency: 0.15630  dbSNP: rs13102440

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152835	SCV000202231	benign	not specified	2014-01-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152835	SCV000316228	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709664	SCV000744986	benign	Bardet-Biedl syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000264109	SCV001000475	benign	Bardet-Biedl syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001094786	SCV001738586	benign	Bardet-Biedl syndrome 12	2021-06-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715744	SCV005302738	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000709664	SCV000734321	benign	Bardet-Biedl syndrome 1		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001094786	SCV001462025	benign	Bardet-Biedl syndrome 12	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152835	SCV001952304	benign	not specified		no assertion criteria provided	clinical testing