Submissions for variant NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe)

gnomAD frequency: 0.00110  dbSNP: rs537409943

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757651	SCV000885952	likely benign	Polycystic kidney disease, adult type	2018-07-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001563042	SCV001785916	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing	Has been previously published as a known polymorphic variant in a supplemental table (Rossetti et al., 2012); This variant is associated with the following publications: (PMID: 22383692)
CeGaT Center for Human Genetics Tuebingen	RCV001563042	SCV002545731	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PKD1: BP4
Ambry Genetics	RCV002533809	SCV003695037	likely benign	Inborn genetic diseases	2022-06-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.