ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1482C>G (p.Gly494=)

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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 RCV003640219 SCV004449754 likely benign Developmental and epileptic encephalopathy, 12 2023-12-07 criteria provided, single submitter clinical testing

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