ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5352C>T (p.Asn1784=) (rs140641762)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162510 SCV000212901 likely benign Hereditary cancer-predisposing syndrome 2015-05-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000988695 SCV000558435 likely benign Ataxia-telangiectasia syndrome 2020-11-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162510 SCV000682264 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000732576 SCV000714708 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21933854)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732576 SCV000860546 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Mendelics RCV000988695 SCV001138519 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732576 SCV001475561 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing

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