ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1990-121C>T

gnomAD frequency: 0.41163  dbSNP: rs2241031
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) RCV000075465 SCV000106463 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001711175 SCV001945161 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202097 SCV000257079 benign not specified no assertion criteria provided research

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