ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.966_974dup (p.Asp324_Leu325insPheLysAsp)

dbSNP: rs2115743637
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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 Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001530183 SCV001739467 uncertain significance Argininosuccinate lyase deficiency 2020-02-28 criteria provided, single submitter clinical testing

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