ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.431_432delinsAA (p.Phe144Ter) (rs1114167511)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491657 SCV000579705 pathogenic Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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