ClinVar Miner

Submissions for variant NM_018129.4(PNPO):c.281C>T (p.Ala94Val)

dbSNP: rs1555563203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625618 SCV000746119 uncertain significance Pyridoxal phosphate-responsive seizures 2017-09-18 no assertion criteria provided clinical testing

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