ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6480G>A (p.Lys2160=)

dbSNP: rs2136239159
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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 RCV001443769 SCV001646754 likely benign Ataxia-telangiectasia syndrome 2021-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584947 SCV004361799 likely benign Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004590463 SCV005084654 benign Familial cancer of breast 2024-06-06 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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