ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-78A>G

gnomAD frequency: 0.36570  dbSNP: rs11129748
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) RCV000075094 SCV000106085 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001711174 SCV001939570 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202138 SCV000257042 benign not specified no assertion criteria provided research

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