Submissions for variant NM_000275.3(OCA2):c.574-19A>G

gnomAD frequency: 0.00618  dbSNP: rs145242923

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612309	SCV000711957	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: outside ROI. OB 12/14/15: One compound het patient with with oc ular albinism who had exon 7 deletion and this variant was reported (Spritz 1995 ). Freq 1.1%
Eurofins Ntd Llc (ga)	RCV000729766	SCV000857455	uncertain significance	not provided	2017-10-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000729766	SCV001501537	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	OCA2: BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000729766	SCV001721805	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001797759	SCV002040114	likely benign	Tyrosinase-positive oculocutaneous albinism	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905571	SCV004725607	likely benign	OCA2-related disorder	2023-03-15	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).