ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486073 SCV004234718 uncertain significance Hereditary spherocytosis type 5 2023-03-29 criteria provided, single submitter clinical testing

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