ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6552C>T (p.Ser2184=) (rs565124064)

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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 RCV000166399 SCV000217191 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 criteria provided, single submitter clinical testing
Color RCV000166399 SCV000904707 likely benign Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000616185 SCV000732747 likely benign not specified 2017-06-16 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 RCV000616185 SCV000916582 uncertain significance not specified 2018-06-15 criteria provided, single submitter clinical testing Variant summary: ATM c.6552C>T results in a synonymous change. 4/5 in silico splicing tools predict no significant impact on splicing, though these predictions have not been supported by experimental studies. The variant allele was found at a frequency of 1.6e-05 in 121406 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6552C>T in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and both classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000550722 SCV000622677 likely benign Ataxia-telangiectasia syndrome 2017-08-22 criteria provided, single submitter clinical testing

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