ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2284+54C>A (rs566375223)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205741 SCV000261226 likely benign Multiple endocrine neoplasia, type 2 2015-10-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727042 SCV000705107 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000597255 SCV000723971 likely benign not specified 2018-02-01 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 RCV000663014 SCV000786030 likely benign Multiple endocrine neoplasia, type 2a 2018-02-06 criteria provided, single submitter clinical testing

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