ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)

gnomAD frequency: 0.00001  dbSNP: rs750820522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002482 SCV001160431 pathogenic Hereditary spherocytosis type 1 2019-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001002482 SCV004236881 pathogenic Hereditary spherocytosis type 1 2023-06-12 criteria provided, single submitter clinical testing

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