ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)

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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 RCV003120255 SCV003800340 uncertain significance Elliptocytosis 1 2022-03-30 criteria provided, single submitter clinical testing

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