Submissions for variant NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)

gnomAD frequency: 0.01342  dbSNP: rs16883930

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179934	SCV000232254	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095227	SCV000464777	benign	Sialic acid storage disease, severe infantile type	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	RCV000301477	SCV000464778	likely benign	Salla disease	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000179934	SCV000514635	benign	not specified	2016-04-12	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.
SIB Swiss Institute of Bioinformatics	RCV000179934	SCV000803537	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000301477	SCV001724330	benign	Salla disease	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705010	SCV005222203	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000301477	SCV001453511	benign	Salla disease	2020-09-16	no assertion criteria provided	clinical testing