ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn)

gnomAD frequency: 0.00001  dbSNP: rs1374938976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507867 SCV001713687 uncertain significance not provided 2020-02-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145677 SCV003833504 uncertain significance Hereditary spherocytosis type 5 2022-03-24 criteria provided, single submitter clinical testing

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