ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2456del (p.Cys819fs)

dbSNP: rs2135422280
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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 RCV003464923 SCV004216237 likely pathogenic Familial cancer of breast 2021-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003464923 SCV004931666 pathogenic Familial cancer of breast 2024-01-17 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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