ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.321+2dup

dbSNP: rs281860263
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 RCV000033907 SCV000040255 pathogenic Adenine phosphoribosyltransferase deficiency 1997-01-01 no assertion criteria provided literature only
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland RCV000033907 SCV001449087 pathogenic Adenine phosphoribosyltransferase deficiency 2020-09-01 no assertion criteria provided literature only

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