ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.947A>G (p.Asp316Gly)

gnomAD frequency: 0.00001  dbSNP: rs760321571
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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 RCV001802325 SCV002050235 uncertain significance Hereditary spherocytosis type 1 2021-03-09 criteria provided, single submitter clinical testing

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