Submissions for variant NM_031885.5(BBS2):c.-40T>C

gnomAD frequency: 0.07623  dbSNP: rs115078074

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248900	SCV000314805	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402587	SCV000398079	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.
Genome-Nilou Lab	RCV000402587	SCV001737395	benign	Bardet-Biedl syndrome 2	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001526787	SCV001737396	benign	Retinitis pigmentosa 74	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001668592	SCV001890563	benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668592	SCV005216490	likely benign	not provided		criteria provided, single submitter	not provided