Submissions for variant NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)

gnomAD frequency: 0.00287  dbSNP: rs116483694

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195041	SCV000246782	benign	not specified	2018-07-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000195041	SCV000523232	likely benign	not specified	2016-02-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000709631	SCV000743769	benign	Bardet-Biedl syndrome 1	2014-12-15	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709631	SCV000745172	benign	Bardet-Biedl syndrome 1	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625095	SCV000759884	benign	Bardet-Biedl syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163185	SCV001325198	likely benign	Bardet-Biedl syndrome 9	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004706651	SCV005226685	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000195041	SCV001923409	benign	not specified		no assertion criteria provided	clinical testing