Submissions for variant NM_031885.5(BBS2):c.1413A>C (p.Val471=)

gnomAD frequency: 0.01415  dbSNP: rs35294865

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082284	SCV000114233	benign	not specified	2013-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205379	SCV000259776	benign	Bardet-Biedl syndrome	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082284	SCV000314808	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709676	SCV000745155	likely benign	Bardet-Biedl syndrome 1	2017-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094292	SCV001750600	benign	Bardet-Biedl syndrome 2	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533780	SCV001750601	benign	Retinitis pigmentosa 74	2021-07-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498433	SCV002809140	likely benign	Bardet-Biedl syndrome 2; Retinitis pigmentosa 74	2022-02-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704845	SCV005216483	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000709676	SCV000745823	benign	Bardet-Biedl syndrome 1	2017-04-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001094292	SCV001457434	benign	Bardet-Biedl syndrome 2	2020-09-16	no assertion criteria provided	clinical testing