Submissions for variant NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)

gnomAD frequency: 0.00230  dbSNP: rs139815340

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000225884	SCV000291329	benign	Autosomal recessive polycystic kidney disease	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000250293	SCV000315793	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250293	SCV000331013	benign	not specified	2015-10-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000225884	SCV000464098	uncertain significance	Autosomal recessive polycystic kidney disease	2018-01-13	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000250293	SCV001339125	likely benign	not specified	2020-03-16	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001449647	SCV001652825	likely benign	Polycystic kidney disease 4	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706278	SCV004163600	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	PKHD1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706278	SCV001926268	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706278	SCV001969130	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000225884	SCV002081014	benign	Autosomal recessive polycystic kidney disease	2017-06-30	no assertion criteria provided	clinical testing