ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6558G>A (p.Gly2186=)

gnomAD frequency: 0.00001  dbSNP: rs1555117263
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571247 SCV000665620 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 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 RCV001500203 SCV001704985 likely benign Ataxia-telangiectasia syndrome 2022-07-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271529 SCV002555967 likely benign not specified 2022-06-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000571247 SCV004361802 likely benign Hereditary cancer-predisposing syndrome 2023-06-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592688 SCV005084191 benign Familial cancer of breast 2024-06-07 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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