ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1511-41G>C (rs202215396)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206330 SCV000262390 likely benign Lynch syndrome 2016-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455376 SCV000539694 uncertain significance not specified 2016-12-14 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This is an intronic variant. The variant has been reported in one patient with a sebaceous adenoma whose mother had CRC at age 56. Staining of MSH2 in the tumor was normal (Everett 2014). This variant is present in ExAC at a MaxMAF of 0.04% (30 alleles) and in gnomAD at 0.05% (68 alleles). It is classified in ClinVar as likely benign by Invitae (1 star).
GeneDx RCV000455376 SCV000728521 likely benign not specified 2018-01-10 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.
Counsyl RCV000663053 SCV000786103 likely benign Lynch syndrome I 2018-02-28 criteria provided, single submitter clinical testing

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