ClinVar Miner

Submissions for variant NM_144563.3(RPIA):c.596+3A>G

gnomAD frequency: 0.00001  dbSNP: rs373335890
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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 RCV001253368 SCV001429047 uncertain significance Deficiency of ribose-5-phosphate isomerase 2018-10-01 criteria provided, single submitter clinical testing This variant was identified as homozygous

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