ClinVar Miner

Submissions for variant NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) (rs387907599)

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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 Medical Genetics, Oslo University Hospital RCV000050237 SCV000082829 pathogenic BLOOD GROUP--LUTHERAN INHIBITOR; Congenital dyserythropoietic anemia, type IV; Fetal hemoglobin quantitative trait locus 6 no assertion criteria provided not provided Converted during submission to Pathogenic.

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