ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.5395-1162C>A

gnomAD frequency: 0.00138  dbSNP: rs145094714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954941 SCV001101608 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000825 SCV001157890 likely benign Hereditary spherocytosis type 1 2022-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000825 SCV002524956 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954941 SCV005050808 benign not provided 2024-05-01 criteria provided, single submitter clinical testing ANK1: BP4, BP7, BS1, BS2

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