ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)

dbSNP: rs143682977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV000119050 SCV002500002 pathogenic Hereditary spherocytosis type 5 2022-03-01 criteria provided, single submitter research
GeneReviews RCV000119050 SCV000153762 not provided Hereditary spherocytosis type 5 no assertion provided literature only

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