ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV003108004 SCV002569067 pathogenic Hereditary spherocytosis type 2 2022-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134416 SCV003817661 likely pathogenic not provided 2022-10-11 criteria provided, single submitter clinical testing

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