ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5460del (p.Lys1820fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466624 SCV004210280 likely pathogenic Familial cancer of breast 2023-06-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003466624 SCV004932579 pathogenic Familial cancer of breast 2024-01-25 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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