ClinVar Miner

Submissions for variant NM_000324.2(RHAG):c.447T>G (p.Ile149Met) (rs1554174425)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research RCV000505544 SCV000599794 pathogenic Stomatocytosis I 2017-06-27 no assertion criteria provided research This variant was not found in the parents and unaffected sibling. It has occurred de novo and heterozygosity confirms the reported autosomal dominant mode of inheritance. NM_000324.2(RHAG):c.447 T>G was not found in 100 alleles of unrelated hematologically normal individuals.

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