ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4910-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1309478967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552366 SCV000622543 likely benign Ataxia-telangiectasia syndrome 2024-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567462 SCV000665605 likely benign Hereditary cancer-predisposing syndrome 2022-08-31 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.
Baylor Genetics RCV003464122 SCV004207054 uncertain significance Familial cancer of breast 2023-10-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003464122 SCV005082068 likely benign Familial cancer of breast 2024-05-21 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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