Submissions for variant NM_000276.4(OCRL):c.439+3A>G

gnomAD frequency: 0.00248  dbSNP: rs61752971

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000194322	SCV000110352	likely benign	not specified	2018-04-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194322	SCV000248382	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990943	SCV000753974	benign	Lowe syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019526	SCV000846822	likely benign	Nephrolithiasis/nephrocalcinosis	2017-09-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000990943	SCV001142014	benign	Lowe syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490676	SCV002803532	likely benign	Dent disease type 2; Lowe syndrome	2022-04-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729379	SCV004184940	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	OCRL: PP3, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001729379	SCV005206757	likely benign	not provided		criteria provided, single submitter	not provided
GeneDx	RCV001729379	SCV005401521	uncertain significance	not provided	2024-05-16	criteria provided, single submitter	clinical testing	Identified in a patient with atypical Dent disease who also harbored a frameshift variant in the CLCN5 gene in published literature (PMID: 23047739); Observed in hemizygous state in a patient with epilepsy in the literature and not observed in hemizygous state in controls (PMID: 31069529); RNA studies demonstrate a damaging effect: producing a fragment 90 bp shorter than expected with sequencing analysis being consistent with skipping of in-frame exon 6 (PMID: 23047739); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 34426522, 34680992, 31069529, 23047739)
Eye Genetics Research Group, Children's Medical Research Institute	RCV000203379	SCV000256034	uncertain significance	Developmental cataract	2015-01-09	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729379	SCV001977903	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001729379	SCV001978650	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001729379	SCV001979828	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000194322	SCV001980397	benign	not specified		no assertion criteria provided	clinical testing