ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1653G>A (p.Pro551=) (rs368783097)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491078 SCV000579701 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000838399 SCV000980266 likely benign not provided 2018-04-17 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.
Invitae RCV000196638 SCV000252883 benign Multiple endocrine neoplasia, type 1 2018-01-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679252 SCV000805923 benign not specified 2017-09-20 criteria provided, single submitter clinical testing

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