ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1953A>G (p.Leu651=) (rs730881283)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000159605 SCV000214867 likely benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Color RCV000159605 SCV000682016 likely benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000211970 SCV000209589 benign not specified 2014-09-23 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 RCV000587703 SCV000694204 uncertain significance not provided 2016-03-07 criteria provided, single submitter clinical testing Variant summary: c.1953A>G affects a non-conserved nucleotide, resulting in a synonymous change. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant was found in 6/121250 control chromosomes at a frequency of 0.0000495, which does not exceed the maximal expected frequency of a pathogenic allele (0.0039528). This variant has not, to our knowledge, been reported in affected individuals via publications, nor was it evaluated for functional impact by in vivo/vitro studies. Multiple clinical laboratories (via ClinVar) classified this variant as likely benign/benign. Taken together, this variant was classified as VUS-possibly benign until more information becomes available.
Invitae RCV000464921 SCV000558341 likely benign Ataxia-telangiectasia syndrome 2017-12-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587703 SCV000805510 likely benign not provided 2017-01-30 criteria provided, single submitter clinical testing

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