ClinVar Miner

Submissions for variant NM_001271696.3(ABCB7):c.944+3A>G

dbSNP: rs2081385144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253226 SCV001428842 uncertain significance X-linked sideroblastic anemia with ataxia 2018-12-10 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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