ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1267G>C (p.Asp423His) (rs104894264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182455 SCV000234800 pathogenic not provided 2015-09-08 criteria provided, single submitter clinical testing The D418H missense mutation in the MEN1 gene has been reported previously in association with familial isolated hyperparathyroidism (Warner et al., 2004) and multiple endocrine neoplasia type 1 (MEN1) (Jap et al., 2005). Another missense mutation at this codon, D418N, also has been reported in association with MEN1 (Bassett et al., 1998). The variant is found in MEN1 panel(s).

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