ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)

dbSNP: rs1553408245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576857 SCV000677887 likely pathogenic Lynch syndrome 5 2017-03-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000576857 SCV004018867 pathogenic Lynch syndrome 5 2023-03-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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