Submissions for variant NM_001005273.3(CHD3):c.2657A>G (p.His886Arg)

dbSNP: rs1567855081

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SIB Swiss Institute of Bioinformatics	RCV000790867	SCV000930089	likely pathogenic	Snijders Blok-Campeau syndrome	2019-02-19	criteria provided, single submitter	curation	This variant is interpreted as a Likely pathogenic for Snijders Blok-Campeau syndrome, autosomal dominant The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 : Assumed de novo, but without confirmation of paternity and maternity (PMID:30397230). PM1-supporting : PM1 downgraded in strength to Supporting. PP2 : Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease.
CHU Sainte-Justine Research Center, University of Montreal	RCV000714484	SCV000787630	likely pathogenic	Intellectual disability	2018-05-03	no assertion criteria provided	research
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV001264633	SCV001442912	pathogenic	Neurodevelopmental abnormality	2020-04-03	no assertion criteria provided	clinical testing