Submissions for variant NM_000051.4(ATM):c.-18G>A

gnomAD frequency: 0.00004  dbSNP: rs374303671

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000583442	SCV000687280	likely benign	Hereditary cancer-predisposing syndrome	2017-05-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757013	SCV000885036	likely benign	not provided	2018-01-24	criteria provided, single submitter	clinical testing	The ATM c.-18G>A variant (rs374303671), to our knowledge, is not reported in the medical literature. This variant is found in the general population with an overall allele frequency of 0.004% (9/246152 alleles) in the Genome Aggregation Database. This variant occurs in the 5' untranslated region at a nucleotide that is weakly conserved and computational algorithms (NetStart 1.0, Promoter 2.0) do not predict this variant to alter transcription or translation initiation. Based on the available information, this variant is considered likely benign.
GeneDx	RCV000757013	SCV001945459	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493667	SCV004243398	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing