Submissions for variant NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr)

gnomAD frequency: 0.00488  dbSNP: rs145886643

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425988	SCV000518791	benign	not specified	2016-04-22	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	RCV000552434	SCV000646845	benign	Familial acute necrotizing encephalopathy	2023-12-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702446	SCV004148992	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	RANBP2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001702446	SCV005246514	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702446	SCV001929361	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702446	SCV001967529	likely benign	not provided		no assertion criteria provided	clinical testing