Submissions for variant NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)

dbSNP: rs780122780

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001331021	SCV001522919	likely pathogenic	Intellectual disability, autosomal dominant 27	2019-09-06	criteria provided, single submitter	clinical testing	This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV001331021	SCV002023612	likely pathogenic	Intellectual disability, autosomal dominant 27	2020-12-07	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV001331021	SCV003839022	likely pathogenic	Intellectual disability, autosomal dominant 27	2023-03-09	criteria provided, single submitter	curation	This variant is interpreted as likely pathogenic for Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4 upgraded to strong; loss of a region necessary for transcriptional activation activity).
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)	RCV001331021	SCV004031487	pathogenic	Intellectual disability, autosomal dominant 27		no assertion criteria provided	clinical testing