ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3113dup (p.Arg1039fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004442482 SCV004933891 pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV004442482 SCV005055935 likely pathogenic Familial cancer of breast 2024-03-18 criteria provided, single submitter clinical testing

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