ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.*178A>G

dbSNP: rs4695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377670 SCV000399590 benign Adenine phosphoribosyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353515 SCV000483557 benign Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001642999 SCV001856314 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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