ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7587C>T (p.Thr2529=)

dbSNP: rs890244103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583598 SCV000687778 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000934847 SCV001080580 likely benign Ataxia-telangiectasia syndrome 2023-10-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592879 SCV005083726 benign Familial cancer of breast 2024-06-14 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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