ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.426C>T (p.Asp142=)

dbSNP: rs2149522654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803530 SCV002048302 likely benign Elliptocytosis 1 2021-10-17 criteria provided, single submitter clinical testing

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