ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)

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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 RCV003464922 SCV004216234 likely pathogenic Familial cancer of breast 2021-06-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003464922 SCV004930637 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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