Submissions for variant NM_002055.5(GFAP):c.462-8dup

dbSNP: rs572562362

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000398535	SCV000403449	likely benign	Alexander disease	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000675416	SCV000842195	benign	not provided	2017-09-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000675416	SCV001109610	benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000398535	SCV004563359	benign	Alexander disease	2023-09-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675416	SCV000801094	uncertain significance	not provided	2015-12-15	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675416	SCV002035363	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796741	SCV002037669	benign	not specified		no assertion criteria provided	clinical testing