Submissions for variant NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu)

gnomAD frequency: 0.00008  dbSNP: rs3750308

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720013	SCV000515876	benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31748124)
Invitae	RCV000634450	SCV000755759	benign	CHARGE association	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162608	SCV001324566	benign	Hypogonadotropic hypogonadism 5 with or without anosmia	2017-11-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV002429370	SCV002681873	likely benign	Inborn genetic diseases	2017-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001720013	SCV004155884	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	CHD7: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003959884	SCV004768817	likely benign	CHD7-related condition	2019-12-17	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).