ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1354C>A (p.Leu452Ile) (rs151148041)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082963 SCV000556187 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561647 SCV000674800 benign Hereditary cancer-predisposing syndrome 2017-12-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification
Counsyl RCV000662962 SCV000785934 uncertain significance Multiple endocrine neoplasia, type 2a 2018-01-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730805 SCV000858568 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000730805 SCV000979865 likely benign not provided 2018-05-09 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.

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