ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3556+146G>A

gnomAD frequency: 0.54192  dbSNP: rs7562048
Minimum review status: Collection method:
Minimum conflict level:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074878 SCV000108090 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001354853 SCV001891759 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354853 SCV001549566 uncertain significance not provided no assertion criteria provided clinical testing

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