ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1467G>A (p.Leu489=)

gnomAD frequency: 0.00057  dbSNP: rs148165519
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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 RCV000883268 SCV001026561 benign not provided 2024-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804044 SCV002049801 likely benign Hereditary spherocytosis type 1 2021-05-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001804044 SCV002524975 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing

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