ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2262A>G (p.Gln754=)

gnomAD frequency: 0.00002  dbSNP: rs778320952
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582538 SCV000687371 likely benign Hereditary cancer-predisposing syndrome 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000702900 SCV000831775 benign Ataxia-telangiectasia syndrome 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582538 SCV001175751 likely benign Hereditary cancer-predisposing syndrome 2017-12-06 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.
Sema4, Sema4 RCV000582538 SCV002536480 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-15 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004592815 SCV005083803 benign Familial cancer of breast 2024-05-08 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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