ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.458-52G>T

gnomAD frequency: 0.20909  dbSNP: rs1800934
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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) RCV000075001 SCV000108219 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001535028 SCV001752003 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001535028 SCV005243553 benign not provided criteria provided, single submitter not provided

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