Submissions for variant NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)

dbSNP: rs147529495

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000734398	SCV000862537	likely benign	not specified	2018-07-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866712	SCV001007844	benign	Autosomal recessive polycystic kidney disease	2024-01-28	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731915	SCV001984627	likely benign	Polycystic kidney disease 4	2019-12-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000734398	SCV002033876	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796201	SCV002035383	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000866712	SCV002078099	likely benign	Autosomal recessive polycystic kidney disease	2017-05-10	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965549	SCV004784535	likely benign	PKHD1-related disorder	2021-05-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).