ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1759+57G>T

gnomAD frequency: 0.00089  dbSNP: rs17218363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613524 SCV000729730 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512027 SCV001719365 benign Hereditary nonpolyposis colorectal neoplasms 2024-09-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256415 SCV002534408 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002275120 SCV002563568 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing MSH2: BP4, BS1

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