ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1893C>T (p.Asp631=) (rs55846256)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231749 SCV000290538 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000431175 SCV000536032 likely benign not specified 2017-01-05 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 RCV000567099 SCV000674807 likely benign Hereditary cancer-predisposing syndrome 2015-11-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Counsyl RCV000663255 SCV000786482 likely benign Multiple endocrine neoplasia, type 2a 2018-05-16 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000431175 SCV000055370 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only p.D631D was found in the germline of 53yr old lung cancer patient: No mention of MEN2 screening. Likely benign for MEN2 due to silent change. Has been found with another RET change, see c.1853G>A(;)1893C>T.

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