ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.4796A>G (p.Asn1599Ser)

dbSNP: rs2152730933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542370 SCV001761062 uncertain significance See cases 2020-07-14 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003136103 SCV003807275 uncertain significance Neurodevelopmental disorder with or without early-onset generalized epilepsy 2022-11-11 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, BP4 supporting

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