ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480526 SCV004227798 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003631326 SCV004564349 uncertain significance Elliptocytosis 1 2023-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003480526 SCV004685387 benign not provided 2023-11-14 criteria provided, single submitter clinical testing

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