ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.902G>A (p.Arg301His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV004759286 SCV005367941 pathogenic ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb 2024-10-03 no assertion criteria provided literature only
OMIM RCV004732517 SCV005367942 affects FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 2024-10-03 no assertion criteria provided literature only

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