Submissions for variant NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)

gnomAD frequency: 0.03897  dbSNP: rs9689306

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153717	SCV000203275	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153717	SCV000315798	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314391	SCV000464091	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000314391	SCV000557651	benign	Autosomal recessive polycystic kidney disease	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000153717	SCV000966326	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Leu1252Leu in exon 32 of PKHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 5.62% (3725/66314) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs9689306).
GeneDx	RCV001706027	SCV001884785	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000153717	SCV000592893	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000314391	SCV002080987	benign	Autosomal recessive polycystic kidney disease	2017-05-11	no assertion criteria provided	clinical testing