ClinVar Miner

Submissions for variant NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) (rs1554709662)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, University Hospital Magdeburg RCV000677903 SCV000803746 pathogenic Macrocephalus; Intellectual disability criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000850410 SCV000992608 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000754575 SCV001146840 likely pathogenic Macrocephaly, acquired, with impaired intellectual development 2019-10-02 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Macrocephaly, acquired, with impaired intellectual development, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM1-Supporting, PS3-Moderate, PS2-Moderate.
OMIM RCV000754575 SCV000882446 pathogenic Macrocephaly, acquired, with impaired intellectual development 2019-01-23 no assertion criteria provided literature only

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