ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.367-1G>A

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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 RCV002290396 SCV002581191 likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15 2021-11-09 criteria provided, single submitter clinical testing

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