Submissions for variant NM_033028.5(BBS4):c.24+8C>T

gnomAD frequency: 0.00040  dbSNP: rs200055760

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173543	SCV000224665	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094445	SCV000393853	benign	Bardet-Biedl syndrome 4	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.
Invitae	RCV000336731	SCV001000634	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000173543	SCV002104024	benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001094445	SCV002764429	uncertain significance	Bardet-Biedl syndrome 4	2021-11-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001094445	SCV002811883	likely benign	Bardet-Biedl syndrome 4	2021-07-22	criteria provided, single submitter	clinical testing