Submissions for variant NM_006267.5(RANBP2):c.73-6T>A

gnomAD frequency: 0.00516  dbSNP: rs201485597

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514181	SCV000610938	likely benign	not provided	2017-07-31	criteria provided, single submitter	clinical testing
Invitae	RCV001079953	SCV000646840	benign	Familial acute necrotizing encephalopathy	2023-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000603997	SCV000729691	likely benign	not specified	2018-01-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV000514181	SCV004148958	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	RANBP2: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514181	SCV001927849	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514181	SCV001969468	likely benign	not provided		no assertion criteria provided	clinical testing