ClinVar Miner

Submissions for variant NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)

dbSNP: rs1553178399
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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 RCV000656325 SCV000747770 pathogenic Cerebral arteriovenous malformation 2018-02-14 criteria provided, single submitter clinical testing

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