Submissions for variant NM_001009944.3(PKD1):c.11412-6C>T

gnomAD frequency: 0.00018  dbSNP: rs367775096

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002503282	SCV002813666	likely benign	Polycystic kidney disease, adult type	2022-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002541297	SCV003551213	likely benign	Inborn genetic diseases	2021-10-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV002503282	SCV005913934	likely benign	Polycystic kidney disease, adult type	2022-09-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795766	SCV002036108	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795766	SCV002037954	likely benign	not provided		no assertion criteria provided	clinical testing