ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.792+8G>A

gnomAD frequency: 0.00136  dbSNP: rs147777411
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914002 SCV001059161 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001736 SCV001159337 likely benign not specified 2019-04-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001001736 SCV002550475 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001001736 SCV002773911 benign not specified 2021-08-25 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359659 SCV005916991 likely benign Familial adenomatous polyposis 4 2023-11-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000914002 SCV001922256 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000914002 SCV001975194 likely benign not provided no assertion criteria provided clinical testing

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