ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)

gnomAD frequency: 0.00002  dbSNP: rs747737475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274299 SCV002558889 likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002274299 SCV004045799 pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2023-05-26 criteria provided, single submitter clinical testing

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