ClinVar Miner

Submissions for variant NM_018129.4(PNPO):c.132C>T (p.Asp44=)

dbSNP: rs1355321284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606958 SCV000729497 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001465831 SCV001669827 likely benign Pyridoxal phosphate-responsive seizures 2023-01-05 criteria provided, single submitter clinical testing

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