ClinVar Miner

Submissions for variant NM_018129.3(PNPO):c.*2535_*2539delCAACC

dbSNP: rs144540976
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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 RCV000337202 SCV000483651 likely benign Pyridoxal phosphate-responsive seizures 2016-06-14 criteria provided, single submitter clinical testing

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