ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7602C>T (p.Gly2534=)

gnomAD frequency: 0.00006  dbSNP: rs562264493
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221285 SCV000277118 likely benign Hereditary cancer-predisposing syndrome 2015-07-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000556680 SCV000622761 likely benign Ataxia-telangiectasia syndrome 2024-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221285 SCV000687779 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798720 SCV002042907 likely benign Breast and/or ovarian cancer 2020-01-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591000 SCV005084821 benign Familial cancer of breast 2024-06-14 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701293 SCV005204964 likely benign not specified 2024-06-09 criteria provided, single submitter clinical testing

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