ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4965del (p.Lys1656fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290374 SCV002580484 likely pathogenic Familial cancer of breast 2021-12-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002290374 SCV004933889 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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