ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1449C>T (p.Gly483=) (rs200280309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570713 SCV000673633 benign Hereditary cancer-predisposing syndrome 2016-02-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Subpopulation frequency in support of benign classification
GeneKor MSA RCV000570713 SCV000822013 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000234303 SCV000291283 benign Multiple endocrine neoplasia, type 1 2017-12-18 criteria provided, single submitter clinical testing

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