ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086369 SCV000252883 benign Multiple endocrine neoplasia, type 1 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491078 SCV000579701 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000679252 SCV000805923 benign not specified 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000838399 SCV000980266 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286171 SCV001472700 likely benign none provided 2020-06-29 criteria provided, single submitter clinical testing

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