Submissions for variant NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)

gnomAD frequency: 0.00306  dbSNP: rs146854507

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000377060	SCV000332581	benign	not specified	2015-06-22	criteria provided, single submitter	clinical testing
Invitae	RCV000955411	SCV001102115	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480002	SCV002803138	likely benign	Autosomal recessive hypophosphatemic bone disease	2021-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000955411	SCV004164026	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SLC34A3: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000955411	SCV001929539	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000377060	SCV001952747	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000955411	SCV001973168	likely benign	not provided		no assertion criteria provided	clinical testing