ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5475A>G (p.Gln1825=)

dbSNP: rs1555106560
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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 RCV000537402 SCV000622593 likely benign Ataxia-telangiectasia syndrome 2023-04-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584202 SCV000687621 likely benign Hereditary cancer-predisposing syndrome 2016-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584202 SCV005018203 likely benign Hereditary cancer-predisposing syndrome 2023-12-16 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.
Myriad Genetics, Inc. RCV004592507 SCV005082967 benign Familial cancer of breast 2024-05-23 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.
Natera, Inc. RCV000537402 SCV002084206 uncertain significance Ataxia-telangiectasia syndrome 2020-10-22 no assertion criteria provided clinical testing

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