Submissions for variant NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)

dbSNP: rs565457964

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000323455	SCV000352558	likely benign	Mesangiocapillary glomerulonephritis, type II	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956625	SCV001103396	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001253431	SCV001370362	uncertain significance	CFHR5 deficiency	2019-05-08	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5,BS1.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001253431	SCV001429137	uncertain significance	CFHR5 deficiency	2017-08-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294245	SCV002587769	likely benign	Kidney disorder	2017-01-16	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465613	SCV002760468	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000956625	SCV004698406	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CFHR5: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000956625	SCV001744562	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000956625	SCV001808032	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000956625	SCV001973327	uncertain significance	not provided		no assertion criteria provided	clinical testing