ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1311G>A (p.Leu437=) (rs138770431)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000679247 SCV000153858 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000379404 SCV000341629 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333874 SCV000373093 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353672 SCV000373094 uncertain significance Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000379404 SCV000513596 benign not specified 2015-06-03 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.
Ambry Genetics RCV000492032 SCV000579663 likely benign Hereditary cancer-predisposing syndrome 2015-07-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000379404 SCV000604200 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679247 SCV000805917 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679247 SCV001148321 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030197 SCV000052864 not provided Multiple endocrine neoplasia, type 1 2015-10-02 no assertion provided clinical testing

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