ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)

dbSNP: rs1553333594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074948 SCV000108163 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Baylor Genetics RCV003460694 SCV004195748 likely pathogenic Endometrial carcinoma 2023-06-02 criteria provided, single submitter clinical testing

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