ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter)

dbSNP: rs375570541
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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 Human Genetics, University of Leipzig Medical Center RCV001262722 SCV001440694 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 16 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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