Submissions for variant NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)

gnomAD frequency: 0.00061  dbSNP: rs200204857

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000336713	SCV000342911	likely benign	not specified	2017-06-27	criteria provided, single submitter	clinical testing
Invitae	RCV001084453	SCV000629932	benign	Autosomal recessive polycystic kidney disease	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000528475	SCV001154771	uncertain significance	not provided	2017-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084453	SCV001320058	uncertain significance	Autosomal recessive polycystic kidney disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000528475	SCV001778327	likely benign	not provided	2021-12-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940059	SCV004748501	benign	PKHD1-related condition	2021-03-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844822	SCV001876966	uncertain significance	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research
Natera, Inc.	RCV001084453	SCV002078010	benign	Autosomal recessive polycystic kidney disease	2017-11-14	no assertion criteria provided	clinical testing