Submissions for variant NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)

gnomAD frequency: 0.00876  dbSNP: rs33929465

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247649	SCV000303436	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000948946	SCV001095173	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001118258	SCV001276528	likely benign	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000948946	SCV002504455	likely benign	not provided	2019-08-23	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002500858	SCV002808292	likely benign	Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	2022-02-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000948946	SCV004131469	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	OCA2: BP4, BS1, BS2