ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1378C>T (p.Pro460Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464976 SCV002759360 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Muscle AMP deaminase deficiency 2022-12-07 criteria provided, single submitter clinical testing

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