ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2360del (p.Cys786_Leu787insTer)

dbSNP: rs2497388625
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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. RCV004440388 SCV004932844 pathogenic Familial cancer of breast 2024-01-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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