Submissions for variant NM_004183.4(BEST1):c.624G>A (p.Gln208=)

gnomAD frequency: 0.00114  dbSNP: rs150247275

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000086144	SCV000231060	uncertain significance	not provided	2015-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000086144	SCV001721204	benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004815149	SCV005071212	likely benign	Retinal dystrophy	2020-01-01	criteria provided, single submitter	clinical testing
Retina International	RCV000086144	SCV000118288	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV001705815	SCV001926121	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000086144	SCV001975722	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732679	SCV005360893	benign	BEST1-related disorder	2024-08-14	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).