ClinVar Miner

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

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000555393 SCV000622333 likely benign Ataxia-telangiectasia syndrome 2023-05-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777237 SCV000912928 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886407 SCV004703185 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing ATM: PM2, BP4
Natera, Inc. RCV000555393 SCV002077850 uncertain significance Ataxia-telangiectasia syndrome 2021-09-08 no assertion criteria provided clinical testing

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