ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3577-8T>C

dbSNP: rs1555092222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613467 SCV000727583 likely benign not specified 2018-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003605671 SCV004409766 likely benign Ataxia-telangiectasia syndrome 2022-12-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592953 SCV005085660 likely benign Familial cancer of breast 2024-05-15 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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