ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6700C>T (p.Leu2234=) (rs760602228)

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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 RCV000166509 SCV000217309 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing
Color RCV000166509 SCV000682361 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000423866 SCV000515430 likely benign not specified 2015-12-09 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.
Integrated Genetics/Laboratory Corporation of America RCV000590629 SCV000694329 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing Variant summary: ATM c.6700C>T affects a conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant, and Alamut predicts no significant change to splicing. This variant is found in 2/121246 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0039528). The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. One clinical diagnostic lab classified this synonymous ATM variant as likely benign. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Invitae RCV000204108 SCV000261138 likely benign Ataxia-telangiectasia syndrome 2017-12-21 criteria provided, single submitter clinical testing

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