ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)

dbSNP: rs2101942740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509083 SCV001715606 likely pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing PVS1, PM2
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV002291000 SCV002500022 pathogenic Hereditary spherocytosis type 3 2022-03-01 criteria provided, single submitter research

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