Submissions for variant NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)

dbSNP: rs1567861571

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SIB Swiss Institute of Bioinformatics	RCV000790879	SCV000930105	uncertain significance	Snijders Blok-Campeau syndrome	2019-02-19	criteria provided, single submitter	curation	This variant is interpreted as a Uncertain significance-Conflicting evidence 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. PM6-Strong : PM6 upgraded in strength to Strong (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. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS3 :Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (PMID:30397230).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000790879	SCV004045898	pathogenic	Snijders Blok-Campeau syndrome	2022-09-21	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000790879	SCV005368106	likely pathogenic	Snijders Blok-Campeau syndrome	2024-04-22	criteria provided, single submitter	clinical testing	Criteria applied: PS4_MOD,PS2,PM2,PP2,PP3
CHU Sainte-Justine Research Center, University of Montreal	RCV000714500	SCV000787646	likely pathogenic	Intellectual disability	2018-05-03	no assertion criteria provided	research