ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1197G>A (p.Pro399=) (rs148371113)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163896 SCV000214488 likely benign Hereditary cancer-predisposing syndrome 2014-10-20 criteria provided, single submitter clinical testing
Invitae RCV001079831 SCV000253554 benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410397 SCV000489985 likely benign Multiple endocrine neoplasia, type 2b 2016-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000411900 SCV000489986 likely benign Multiple endocrine neoplasia, type 2a 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000612297 SCV000730533 likely benign not specified 2018-03-06 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.
PreventionGenetics,PreventionGenetics RCV000679712 SCV000806997 likely benign not provided 2017-10-23 criteria provided, single submitter clinical testing

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