ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8671+9T>G (rs200190537)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000448274 SCV000537424 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000123717 SCV000167060 benign not specified 2014-02-10 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 RCV000589757 SCV000694383 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The ATM c.8671+9T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 2/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 14/118510 control chromosomes at a frequency of 0.0001181, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0039528). The variant was reported in a CLL patient without strong evidence for pathogenicity (Skowronska_Haematologica_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Lastly, The variant was identified in a specimen tested positive for presumably pathogenic variant CHEK2, c.349A>G (p.A117G). Taken together, this variant is classified as VUS until more evidence become available.
Invitae RCV000196271 SCV000252989 likely benign Ataxia-telangiectasia syndrome 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589757 SCV000805630 likely benign not provided 2017-07-31 criteria provided, single submitter clinical testing

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