ClinVar Miner

Submissions for variant NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)

dbSNP: rs80356714
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012331 SCV000032565 pathogenic X-linked sideroblastic anemia with ataxia 2000-11-01 no assertion criteria provided literature only
GeneReviews RCV000012331 SCV000041063 pathologic X-linked sideroblastic anemia with ataxia 2009-04-07 no assertion criteria provided curation Converted during submission to Pathogenic.

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