ClinVar Miner

Submissions for variant NM_024420.3(PLA2G4A):c.2118+4_2118+7del

dbSNP: rs1557901999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000766190 SCV000897621 pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 2019-03-29 no assertion criteria provided literature only

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