ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2688C>T (p.Thr896=)

gnomAD frequency: 0.00004  dbSNP: rs377333429
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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 RCV001284926 SCV001471025 benign Hereditary spherocytosis type 1 2021-02-25 criteria provided, single submitter clinical testing

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