ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)

dbSNP: rs121918332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mark Fleming Laboratory, Boston Children's Hospital RCV000001181 SCV001736703 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
OMIM RCV000001181 SCV000021331 pathogenic Sideroblastic anemia 2 2009-06-01 no assertion criteria provided literature only

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