Submissions for variant NM_001170629.2(CHD8):c.27C>T (p.Phe9=)

gnomAD frequency: 0.00436  dbSNP: rs75191413

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173233	SCV000224328	benign	not specified	2015-03-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312702	SCV000846374	likely benign	Inborn genetic diseases	2016-05-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000870876	SCV001012438	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000870876	SCV001846576	benign	not provided	2019-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000870876	SCV002545156	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CHD8: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000870876	SCV005218432	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004552950	SCV004794060	benign	CHD8-related disorder	2021-06-30	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).