ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)

dbSNP: rs763099442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000735816 SCV000863571 pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2011-07-22 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000735816 SCV000920412 pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2011-07-22 no assertion criteria provided clinical testing

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