ClinVar Miner

Submissions for variant NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs)

dbSNP: rs1571392612
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995604 SCV001149879 pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 2019-06-07 criteria provided, single submitter clinical testing

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