Submissions for variant NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)

gnomAD frequency: 0.02103  dbSNP: rs976529

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247646	SCV000311548	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367688	SCV000356815	benign	Senior-Loken syndrome 7	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.
Illumina Laboratory Services, Illumina	RCV000399289	SCV000356816	benign	Bardet-Biedl syndrome 16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557519	SCV000655041	benign	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000399289	SCV002054676	benign	Bardet-Biedl syndrome 16	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000367688	SCV002054677	benign	Senior-Loken syndrome 7	2021-07-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294164	SCV002587417	benign	Kidney disorder	2018-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713453	SCV005283063	benign	not provided		criteria provided, single submitter	not provided