ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.942+28_942+29del

dbSNP: rs11309117
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339465 SCV000430916 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339465 SCV000430917 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860488 SCV001000548 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-20 criteria provided, single submitter clinical testing
Mendelics RCV000415623 SCV001135713 likely benign Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001683345 SCV001899365 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256214 SCV002526758 benign Hereditary cancer-predisposing syndrome 2020-03-22 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001572925 SCV002552208 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150165 SCV003837618 likely benign Breast and/or ovarian cancer 2021-07-06 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415623 SCV000493754 uncertain significance Lynch syndrome 1 2015-06-04 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572925 SCV001798035 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572925 SCV001932177 benign not specified no assertion criteria provided clinical testing

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