ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003334734 SCV004043870 pathogenic Familial cancer of breast 2023-05-03 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.
Baylor Genetics RCV003334734 SCV004207753 likely pathogenic Familial cancer of breast 2023-08-16 criteria provided, single submitter clinical testing

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