ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)

gnomAD frequency: 0.00133  dbSNP: rs75424023
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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 RCV000957267 SCV001104066 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000957267 SCV001714503 uncertain significance not provided 2021-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804112 SCV002049110 likely benign Hereditary spherocytosis type 5 2023-05-02 criteria provided, single submitter clinical testing

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