ClinVar Miner

Submissions for variant NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)

dbSNP: rs1555196298
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000656326 SCV000747771 pathogenic Cerebral arteriovenous malformation 2018-02-14 criteria provided, single submitter clinical testing

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