ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1320C>G (p.Ala440=)

dbSNP: rs565533397
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412557 SCV001614643 likely benign Developmental and epileptic encephalopathy, 12 2023-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001638087 SCV001852307 benign not provided 2015-09-28 criteria provided, single submitter clinical testing

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