ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4437-5A>G

dbSNP: rs876658290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221017 SCV000273325 likely benign Hereditary cancer-predisposing syndrome 2020-09-18 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 RCV000221017 SCV000906778 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454607 SCV001658339 likely benign Ataxia-telangiectasia syndrome 2024-05-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589919 SCV005085548 likely benign Familial cancer of breast 2024-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998443 SCV005624223 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing

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