Submissions for variant NM_152594.3(SPRED1):c.685-8T>C

gnomAD frequency: 0.00005  dbSNP: rs760690837

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233287	SCV000291523	likely benign	Legius syndrome	2023-12-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813435	SCV002060700	likely benign	Noonan syndrome and Noonan-related syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002229666	SCV002511972	benign	not specified	2022-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723826	SCV002585485	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	SPRED1: BP4
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000233287	SCV004015552	likely benign	Legius syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723826	SCV001953810	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723826	SCV001969915	likely benign	not provided		no assertion criteria provided	clinical testing