Submissions for variant NM_000152.5(GAA):c.858+30T>C

gnomAD frequency: 0.65092  dbSNP: rs2304845

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153287	SCV000202764	benign	not specified	2013-12-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153287	SCV000302698	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000153287	SCV000919376	benign	not specified	2017-11-30	criteria provided, single submitter	clinical testing	Variant summary: The GAA c.858+30T>C variant involves the alteration of a intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 176950/267292 control chromosomes (59783 homozygotes) at a frequency of 0.6620101, which indicates this is the major allele (the allele most commonly observed in the general population). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Genome-Nilou Lab	RCV001537765	SCV001754719	benign	Glycogen storage disease, type II	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001640191	SCV001857408	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153287	SCV001956413	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153287	SCV001972533	benign	not specified		no assertion criteria provided	clinical testing