Submissions for variant NM_000275.3(OCA2):c.1365-15C>T

gnomAD frequency: 0.51222  dbSNP: rs12910433

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248563	SCV000303422	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384672	SCV000390143	benign	Tyrosinase-positive oculocutaneous albinism	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga)	RCV000248563	SCV000857453	benign	not specified	2017-10-09	criteria provided, single submitter	clinical testing
Invitae	RCV001522291	SCV001731806	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384672	SCV002029276	benign	Tyrosinase-positive oculocutaneous albinism	2021-09-05	criteria provided, single submitter	clinical testing