ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.97C>T (p.Leu33=)

gnomAD frequency: 0.01977  dbSNP: rs8191473
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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 RCV000307036 SCV000399600 likely benign Adenine phosphoribosyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380514 SCV000483560 likely benign Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001518023 SCV001726650 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001518023 SCV001822393 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing

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