Submissions for variant NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)

gnomAD frequency: 0.01664  dbSNP: rs35910969

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000005588	SCV001140826	uncertain significance	Hypophosphatemic nephrolithiasis/osteoporosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001514734	SCV001722653	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001514734	SCV001753906	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31672324, 18784102, 26787776, 25333069, 22995991, 31171716, 29275531)
CeGaT Center for Human Genetics Tuebingen	RCV001514734	SCV002563433	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	NHERF1: BS1, BS2
OMIM	RCV000005588	SCV000025770	pathogenic	Hypophosphatemic nephrolithiasis/osteoporosis 2	2008-09-11	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000005588	SCV000733698	benign	Hypophosphatemic nephrolithiasis/osteoporosis 2		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701718	SCV001928411	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001514734	SCV001952371	likely benign	not provided		no assertion criteria provided	clinical testing