ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1018C>A (p.Arg340=) (rs371364206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568413 SCV000664546 likely benign Hereditary cancer-predisposing syndrome 2018-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000246806 SCV000529706 likely benign not specified 2016-08-03 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.
Invitae RCV000461335 SCV000554179 benign Multiple endocrine neoplasia, type 1 2017-12-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246806 SCV000303130 likely benign not specified criteria provided, single submitter clinical testing

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