ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1800_1801del (p.His600fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV005247756 SCV005895909 pathogenic Familial cancer of breast 2024-10-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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