ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)

dbSNP: rs1861879186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257371 SCV001433897 likely pathogenic Heart, malformation of; Short ribs; Deformed rib cage; Abnormality of the lung; Short long bone 2019-10-16 criteria provided, single submitter clinical testing

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