ClinVar Miner

Submissions for variant NM_018129.4(PNPO):c.363+7G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003506883 SCV004307824 likely benign Pyridoxal phosphate-responsive seizures 2023-08-24 criteria provided, single submitter clinical testing

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