ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4665C>T (p.Leu1555=)

gnomAD frequency: 0.00005  dbSNP: rs374431061
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163519 SCV000214077 likely benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Eurofins Ntd Llc (ga) RCV000725936 SCV000340649 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000725936 SCV000535764 likely benign not provided 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001081281 SCV000558423 likely benign Ataxia-telangiectasia syndrome 2024-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163519 SCV000682217 likely benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000330293 SCV000918516 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000163519 SCV002819221 likely benign Hereditary cancer-predisposing syndrome 2022-11-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589714 SCV005083756 benign Familial cancer of breast 2024-05-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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