ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.10dup (p.Glu4fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576172 SCV005052008 likely pathogenic Argininosuccinate lyase deficiency 2024-02-01 criteria provided, single submitter curation

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