Submissions for variant NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser)

gnomAD frequency: 0.00145  dbSNP: rs145247723

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000947119	SCV001093288	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000947119	SCV005221683	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001276128	SCV001461979	uncertain significance	Achromatopsia	2020-01-24	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000947119	SCV001921952	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000947119	SCV001974592	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004733096	SCV005363062	likely benign	CNGB3-related disorder	2024-08-27	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).