Submissions for variant NM_019892.6(INPP5E):c.1875G>A (p.Glu625=)

gnomAD frequency: 0.00128  dbSNP: rs148539728

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422552	SCV000527338	likely benign	not specified	2016-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860581	SCV001000678	benign	Familial aplasia of the vermis	2025-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001796047	SCV002034560	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796047	SCV002038015	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539852	SCV004797072	likely benign	INPP5E-related disorder	2021-05-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).