ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6723C>T (p.Asn2241=)

dbSNP: rs750763671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771925 SCV000904716 likely benign Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001448446 SCV001651538 likely benign Ataxia-telangiectasia syndrome 2021-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771925 SCV003866498 likely benign Hereditary cancer-predisposing syndrome 2022-11-02 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. RCV004588177 SCV005082317 benign Familial cancer of breast 2024-06-10 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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