Submissions for variant NM_024649.5(BBS1):c.1719A>G (p.Gln573=)

gnomAD frequency: 0.00194  dbSNP: rs150553044

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000709683	SCV000373282	likely benign	Bardet-Biedl syndrome 1	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000330285	SCV000636517	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709683	SCV000744900	likely benign	Bardet-Biedl syndrome 1	2017-06-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820905	SCV002067026	benign	not specified	2021-03-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706455	SCV001917581	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000709683	SCV002094780	likely benign	Bardet-Biedl syndrome 1	2019-10-22	no assertion criteria provided	clinical testing