ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2467-8C>T

dbSNP: rs1425701157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603204 SCV000728377 likely benign not specified 2018-03-13 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.
Color Diagnostics, LLC DBA Color Health RCV000772292 SCV000905410 likely benign Hereditary cancer-predisposing syndrome 2018-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000934336 SCV001080057 likely benign Ataxia-telangiectasia syndrome 2025-01-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592955 SCV005083118 likely benign Familial cancer of breast 2024-05-09 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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