ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1252C>T (p.Gln418Ter)

dbSNP: rs2145476583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252384 SCV002523501 likely pathogenic See cases 2020-02-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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