ClinVar Miner

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

gnomAD frequency: 0.05786  dbSNP: rs2070256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388967 SCV000399596 likely benign Adenine phosphoribosyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323279 SCV000483559 likely benign Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653568 SCV001871406 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653568 SCV005219602 likely benign not provided criteria provided, single submitter not provided

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