Submissions for variant NM_019892.6(INPP5E):c.812+7_812+10del

dbSNP: rs5901103

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243300	SCV000313448	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000243300	SCV000331389	benign	not specified	2015-11-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311422	SCV000478770	benign	Familial aplasia of the vermis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001722336	SCV000728574	benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000311422	SCV001000070	benign	Familial aplasia of the vermis	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730636	SCV001981256	benign	Joubert syndrome 1	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730635	SCV001981268	benign	MORM syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000243300	SCV001742039	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243300	SCV001973210	benign	not specified		no assertion criteria provided	clinical testing