ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.1071_1077del (p.Asn358fs)

dbSNP: rs869025285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sankaran Lab, Boston Children's Hospital RCV000207065 SCV000262628 pathogenic Hereditary elliptocytosis 2015-12-25 no assertion criteria provided clinical testing Homozygous loss of function in EPB41, similar to 3 prior cases in literature

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