ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.506C>T (p.Ser169Phe)

dbSNP: rs587779843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988643 SCV001138435 uncertain significance Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569833 SCV005057070 uncertain significance Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing

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