ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2922-4A>G

dbSNP: rs1555084924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570633 SCV000660545 likely benign Hereditary cancer-predisposing syndrome 2021-09-20 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.
Color Diagnostics, LLC DBA Color Health RCV000570633 SCV000912316 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-31 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -4 position of intron 19 of the ATM gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may not be associated with disease, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001461397 SCV001665298 likely benign Ataxia-telangiectasia syndrome 2023-06-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592619 SCV005084093 likely benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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