ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1760-62G>A

gnomAD frequency: 0.02701  dbSNP: rs17218439
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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) RCV000076274 SCV000107298 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Vantari Genetics RCV000210808 SCV000267052 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001636634 SCV001849911 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315599 SCV004015937 benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202196 SCV000257151 benign not specified no assertion criteria provided research

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