ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.194A>T (p.Asp65Val)

gnomAD frequency: 0.00003  dbSNP: rs104894506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland RCV000033903 SCV001449074 pathogenic Adenine phosphoribosyltransferase deficiency 2020-09-01 criteria provided, single submitter clinical testing
OMIM RCV000033903 SCV000040257 pathogenic Adenine phosphoribosyltransferase deficiency 2013-09-18 no assertion criteria provided literature only
GeneReviews RCV000033903 SCV000057817 not provided Adenine phosphoribosyltransferase deficiency no assertion provided literature only

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