ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.407T>C (p.Met136Thr)

dbSNP: rs28999113
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019958 SCV000040256 pathogenic APRT deficiency, Japanese type 1996-11-01 no assertion criteria provided literature only
GeneReviews RCV000033908 SCV000057822 not provided Adenine phosphoribosyltransferase deficiency no assertion provided literature only
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland RCV000033908 SCV001449099 pathogenic Adenine phosphoribosyltransferase deficiency 2020-09-01 no assertion criteria provided literature only

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