ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1866dup (p.Pro623fs)

dbSNP: rs2104372581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244287 SCV002512746 likely pathogenic Lynch syndrome 5 2021-07-06 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate
Myriad Genetics, Inc. RCV002244287 SCV004187337 pathogenic Lynch syndrome 5 2023-08-16 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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