ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5320-4C>G (rs1316146972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000581308 SCV000687616 likely benign Hereditary cancer-predisposing syndrome 2016-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581308 SCV001185867 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The c.5320-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 35 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. The BDGP splice prediction software does not produce a reliable prediction for the nearby native splice acceptor site, and the ESEfinder splice prediction software does not predict a deleterious effect on splicing; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001400166 SCV001601969 likely benign Ataxia-telangiectasia syndrome 2020-10-19 criteria provided, single submitter clinical testing

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