ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)

dbSNP: rs386833403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197197 SCV001367833 pathogenic Multiple endocrine neoplasia, type 1 2019-03-31 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.

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