ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.927+1G>A (rs398124437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082339 SCV000114302 pathogenic not provided 2012-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000082339 SCV000234760 pathogenic not provided 2016-04-04 criteria provided, single submitter clinical testing The c.912+1 G>A splice site variant in the MEN1 gene has been previously reported in association with multiple endocrine neoplasia type 1 (MEN1) (Mutch et al., 1999). This variant destroys the canonical splice donor site in intron 6, and is expected to cause abnormal gene splicing.
Ambry Genetics RCV000491428 SCV000579633 pathogenic Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Functionally-validated splicing mutation

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