ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1608-19G>T

gnomAD frequency: 0.00004  dbSNP: rs773158102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582360 SCV000687316 likely benign Hereditary cancer-predisposing syndrome 2015-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000608206 SCV000728915 benign not specified 2015-06-23 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 RCV002060577 SCV002384506 likely benign Ataxia-telangiectasia syndrome 2023-11-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592798 SCV005084574 likely benign Familial cancer of breast 2024-04-30 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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