ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7018G>T (p.Val2340Phe)

dbSNP: rs876659429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580899 SCV000682384 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049608 SCV005678787 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-04-04 criteria provided, single submitter clinical testing

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