ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.94+11G>A

dbSNP: rs745456534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822959 SCV001762510 uncertain significance Aminoacylase 1 deficiency 2021-07-01 no assertion criteria provided clinical testing

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