ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1276+51C>A

gnomAD frequency: 0.01831  dbSNP: rs17217961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076093 SCV000107107 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001610346 SCV001841766 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315597 SCV004015935 benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001682755 SCV001905769 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001682755 SCV001958960 benign not specified no assertion criteria provided clinical testing

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