Submissions for variant NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val)

gnomAD frequency: 0.88574  dbSNP: rs28542318

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174611	SCV000225933	benign	not specified	2014-11-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000174611	SCV000711913	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Glu513Val in exon 13 of SLC34A3: This variant is not expected to have clinical significance because it has been identified in 99.94% (8411/8416) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs28542318).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518568	SCV001727294	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808447	SCV002056462	benign	Autosomal recessive hypophosphatemic bone disease	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001518568	SCV005318083	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000174611	SCV001743746	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000174611	SCV001930038	benign	not specified		no assertion criteria provided	clinical testing