ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.-18G>A (rs374303671)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Color RCV000583442 SCV000687280 likely benign Hereditary cancer-predisposing syndrome 2017-05-12 criteria provided, single submitter clinical testing

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