ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6336C>T (p.Cys2112=)

gnomAD frequency: 0.00001  dbSNP: rs755845798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557971 SCV000622655 likely benign Ataxia-telangiectasia syndrome 2020-09-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175896 SCV001339698 likely benign Hereditary cancer-predisposing syndrome 2018-12-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592514 SCV005082909 benign Familial cancer of breast 2024-06-05 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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