ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.1621C>T (p.Arg541Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290395 SCV002581190 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 15 2021-11-09 criteria provided, single submitter clinical testing

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