Submissions for variant NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)

gnomAD frequency: 0.00542  dbSNP: rs139078629

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000960239	SCV001107198	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001171339	SCV001328286	uncertain significance	Chronic kidney disease	2020-05-28	criteria provided, single submitter	research	PP2, PP3, BS1
GeneDx	RCV000960239	SCV001883001	benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000960239	SCV004151343	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	FN1: BS2
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000960239	SCV001553229	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000960239	SCV001743982	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726390	SCV001966359	benign	not specified		no assertion criteria provided	clinical testing