Submissions for variant NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)

dbSNP: rs1555453872

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000501173	SCV000592797	pathogenic	Autosomal recessive polycystic kidney disease		criteria provided, single submitter	clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001095637	SCV001251278	pathogenic	Polycystic kidney disease, adult type	2020-02-05	criteria provided, single submitter	research	PVS1, PM2, PP4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001095637	SCV001368016	pathogenic	Polycystic kidney disease, adult type	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic.
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV001249167	SCV001422372	pathogenic	not provided	2019-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001095637	SCV002802647	pathogenic	Polycystic kidney disease, adult type	2021-07-17	criteria provided, single submitter	clinical testing
Eurofins-Biomnis	RCV001095637	SCV003935046	pathogenic	Polycystic kidney disease, adult type	2022-10-24	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV001095637	SCV004100656	pathogenic	Polycystic kidney disease, adult type		criteria provided, single submitter	clinical testing	The frameshift duplication p.V2334Gfs*88 in PKD1 (NM_001009944.3) has been reported to ClinVar as Pathogenic by multiple laboratories.The p.V2334Gfs*88 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV001095637	SCV005184190	pathogenic	Polycystic kidney disease, adult type	2024-07-19	criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PS4_Moderate+PP4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001095637	SCV005374427	pathogenic	Polycystic kidney disease, adult type	2024-09-22	criteria provided, single submitter	clinical testing
Genomics England Pilot Project, Genomics England	RCV001095637	SCV001760369	pathogenic	Polycystic kidney disease, adult type		no assertion criteria provided	clinical testing