Submissions for variant NM_000275.3(OCA2):c.1857C>T (p.Asp619=)

gnomAD frequency: 0.00070  dbSNP: rs7164127

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001121583	SCV001280213	uncertain significance	Tyrosinase-positive oculocutaneous albinism	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001429605	SCV001632322	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001121583	SCV002040194	likely benign	Tyrosinase-positive oculocutaneous albinism	2021-11-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701288	SCV001923756	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001429605	SCV001966727	likely benign	not provided		no assertion criteria provided	clinical testing