ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3285-5T>C

dbSNP: rs876659715
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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 RCV000214287 SCV000276472 likely benign Hereditary cancer-predisposing syndrome 2019-11-18 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 RCV000214287 SCV000913997 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001417887 SCV001620095 likely benign Ataxia-telangiectasia syndrome 2024-01-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004590984 SCV005083069 likely benign Familial cancer of breast 2024-05-14 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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