ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.581G>A (p.Arg194His)

gnomAD frequency: 0.00044  dbSNP: rs146348439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757223 SCV000885369 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000757223 SCV002541261 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000757223 SCV003282311 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144581 SCV003833509 uncertain significance Hereditary spherocytosis type 5 2024-01-19 criteria provided, single submitter clinical testing

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