ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5961T>G (p.Ser1987=) (rs1060504265)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575078 SCV000667902 likely benign Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000575078 SCV000687661 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589346 SCV000694311 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: ATM c.5961T>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant, but 5/5 Alamut algorithms predict no significant change to normal splicing. This variant is not found in 121128 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Invitae RCV000465310 SCV000558298 likely benign Ataxia-telangiectasia syndrome 2017-11-15 criteria provided, single submitter clinical testing

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