Submissions for variant NM_017780.4(CHD7):c.6108G>A (p.Pro2036=)

gnomAD frequency: 0.00010  dbSNP: rs372755547

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697848	SCV000526169	likely benign	not provided	2021-02-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866828	SCV001007973	likely benign	CHARGE syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002481313	SCV002803505	likely benign	CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia	2021-12-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697848	SCV004155864	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004701476	SCV005204024	benign	not specified	2024-06-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970176	SCV004777870	likely benign	CHD7-related disorder	2023-11-30	no assertion criteria provided	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).