ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2034A>G (p.Lys678=) (rs894876691)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441687 SCV000513632 likely benign not specified 2015-12-02 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000441687 SCV000539636 likely benign not specified 2016-12-02 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 a silent variant that has not been reported in ClinVar or HGMD. It is not at an exon/intron boundary.
Invitae RCV000456340 SCV000543570 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014087 SCV001174756 likely benign Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing
Color RCV001014087 SCV001352064 likely benign Hereditary cancer-predisposing syndrome 2019-09-26 criteria provided, single submitter clinical testing

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