ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)

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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. RCV003450367 SCV004187252 pathogenic Lynch syndrome 5 2023-08-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003466083 SCV004198134 likely pathogenic Endometrial carcinoma 2022-08-21 criteria provided, single submitter clinical testing

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