ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)

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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 RCV003466609 SCV004210216 likely pathogenic Familial cancer of breast 2023-06-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003466609 SCV004933894 pathogenic Familial cancer of breast 2024-01-19 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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