ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter)

dbSNP: rs1825406258
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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 RCV001286066 SCV001472586 pathogenic Hereditary spherocytosis type 1 2020-01-13 criteria provided, single submitter clinical testing

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