Submissions for variant NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)

gnomAD frequency: 0.00697  dbSNP: rs115959591

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118327	SCV000152707	benign	not specified	2018-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000966905	SCV000525539	benign	not provided	2018-05-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000966905	SCV001114264	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145216	SCV001305865	benign	Pontocerebellar hypoplasia type 2D	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000966905	SCV005298903	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001145216	SCV002082958	benign	Pontocerebellar hypoplasia type 2D	2020-06-24	no assertion criteria provided	clinical testing