ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5178-4dup (rs747750958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561923 SCV000665564 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-12 criteria provided, single submitter clinical testing The c.5178-4dupT intronic variant results from a duplication of one nucleotide 4 nucleotides upstream from coding exon 34 of the ATM gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000561923 SCV000687608 likely benign Hereditary cancer-predisposing syndrome 2017-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001555178 SCV001776549 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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