ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1135del (p.Cys379fs)

dbSNP: rs2150641017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802572 SCV002048926 likely pathogenic Hereditary spherocytosis type 1 2021-06-11 criteria provided, single submitter clinical testing

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