ClinVar Miner

Submissions for variant NM_022080.3(NAPB):c.2T>G (p.Met1Arg)

dbSNP: rs1051445896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003444017 SCV004171038 uncertain significance Developmental and epileptic encephalopathy-107 2023-11-21 criteria provided, single submitter clinical testing

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