ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)

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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 RCV002291038 SCV002500033 pathogenic Hereditary spherocytosis type 2 2022-03-01 criteria provided, single submitter research
Revvity Omics, Revvity RCV003130693 SCV003817716 likely pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing

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