ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2254C>G (p.Leu752Val) (rs756522395)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165359 SCV000216085 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000165359 SCV000682044 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-15 criteria provided, single submitter clinical testing
Mendelics RCV000709172 SCV000838501 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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