Submissions for variant NM_001367721.1(CASK):c.2175T>C (p.Leu725=)

gnomAD frequency: 0.00009  dbSNP: rs757563548

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000553027	SCV000647907	benign	Intellectual disability, CASK-related, X-linked	2023-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316566	SCV000851608	likely benign	Inborn genetic diseases	2017-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001584309	SCV001811794	likely benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538030	SCV004737142	likely benign	CASK-related disorder	2020-02-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).