ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.382_386del (p.Lys128fs)

dbSNP: rs2150661824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001728102 SCV001976544 pathogenic Hereditary spherocytosis type 1 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001728102 SCV002505581 pathogenic Hereditary spherocytosis type 1 2022-03-08 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP

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