ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6333T>C (p.His2111=)

gnomAD frequency: 0.00004  dbSNP: rs55756349
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000122873 SCV000166131 likely benign Ataxia-telangiectasia syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162702 SCV000213159 likely benign Hereditary cancer-predisposing syndrome 2014-06-27 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.
GeneDx RCV001711397 SCV000519058 likely benign not provided 2021-09-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28779002)
Color Diagnostics, LLC DBA Color Health RCV000162702 SCV000682326 likely benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433086 SCV000916588 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162702 SCV002537244 likely benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315810 SCV004017136 likely benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711397 SCV004133264 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ATM: BP4, BP7
Myriad Genetics, Inc. RCV003315810 SCV005085782 benign Familial cancer of breast 2024-06-05 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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