ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val)

dbSNP: rs1321116872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261621 SCV001438907 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 criteria provided, single submitter clinical testing

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