Submissions for variant NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)

dbSNP: rs377139749

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081821	SCV000202451	benign	not specified	2013-12-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081821	SCV000247015	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081821	SCV000258119	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233607	SCV000290338	benign	CHARGE syndrome	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081821	SCV000312949	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000266990	SCV000474401	likely benign	Hypogonadism with anosmia	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514792	SCV000610071	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000233607	SCV000781104	likely benign	CHARGE syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313798	SCV000848028	benign	Inborn genetic diseases	2016-07-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081821	SCV000966269	benign	not specified	2018-04-10	criteria provided, single submitter	clinical testing	p.Ala685_Lys686dup (c.2053_2058dupGCAAAA) in exon 3 of CHD7: This variant is cla ssified as benign because it has been identified in 1% of European chromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD; http://gnom ad.broadinstitute.org; dbSNP rs377139749). ACMG/AMP Criteria applied: BA1.
Mendelics	RCV000233607	SCV001137628	benign	CHARGE syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514792	SCV001143546	benign	not provided	2019-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000514792	SCV001859851	benign	not provided	2016-12-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29304373, 28475860, 25077900)
CeGaT Center for Human Genetics Tuebingen	RCV000514792	SCV004032817	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CHD7: PM4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514792	SCV001743420	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000514792	SCV001920935	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081821	SCV001927609	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081821	SCV001964276	benign	not specified		no assertion criteria provided	clinical testing