Submissions for variant NM_000276.4(OCRL):c.40-5C>T

gnomAD frequency: 0.00088  dbSNP: rs201211377

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195233	SCV000248380	uncertain significance	not specified	2015-04-23	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714602	SCV000845312	uncertain significance	Lowe syndrome	2018-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000714602	SCV002398801	benign	Lowe syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020329	SCV002626398	likely benign	Nephrolithiasis/nephrocalcinosis	2019-03-18	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701636	SCV001931315	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001701636	SCV001962875	likely benign	not provided		no assertion criteria provided	clinical testing