ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9135C>T (p.Leu3045=)

dbSNP: rs2137926498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001466116 SCV001670115 likely benign Ataxia-telangiectasia syndrome 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377789 SCV002684793 likely benign Hereditary cancer-predisposing syndrome 2021-03-24 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465876 SCV002760716 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394066 SCV004133282 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ATM: PM2:Supporting, BP4, BP7
Myriad Genetics, Inc. RCV004591479 SCV005082104 benign Familial cancer of breast 2024-06-25 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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