ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.954dup (p.Arg319fs)

dbSNP: rs397514445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009562 SCV000029780 pathogenic BLOOD GROUP--LUTHERAN INHIBITOR 2008-09-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004742223 SCV005365456 likely benign KLF1-related disorder 2024-06-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV004758592 SCV005367936 pathogenic ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb 2008-09-01 no assertion criteria provided literature only
OMIM RCV004732459 SCV005367937 affects FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 2008-09-01 no assertion criteria provided literature only

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