ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4910-4C>T (rs786202493)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165333 SCV000216056 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-01 criteria provided, single submitter clinical testing The c.4910-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 32 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000444016 SCV000512165 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000628273 SCV000749168 likely benign Ataxia-telangiectasia syndrome 2020-11-14 criteria provided, single submitter clinical testing
Counsyl RCV000628273 SCV000796036 uncertain significance Ataxia-telangiectasia syndrome 2017-11-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000165333 SCV001344859 likely benign Hereditary cancer-predisposing syndrome 2019-11-25 criteria provided, single submitter clinical testing

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