ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter)

dbSNP: rs267607181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004497 SCV000024671 pathogenic Lethal tight skin contracture syndrome 2009-07-01 no assertion criteria provided literature only
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages RCV000128755 SCV000172395 not provided not provided no assertion provided not provided

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