ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)

gnomAD frequency: 0.00041  dbSNP: rs141408004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924756 SCV001070277 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002429 SCV001160366 likely benign Hereditary spherocytosis type 1 2024-11-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005231971 SCV005873408 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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