ClinVar Miner

Submissions for variant NM_001025389.2(AMPD3):c.-48_-43del

dbSNP: rs547362583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326189 SCV000366913 uncertain significance Erythrocyte AMP deaminase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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