ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.70-2A>C

dbSNP: rs1233124208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680098 SCV000807539 pathogenic Sideroblastic anemia 2 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a 15-year-old female with microcytic/reticulocytopenic anemia & short stature
Mark Fleming Laboratory, Boston Children's Hospital RCV000680098 SCV001736663 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research

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