Submissions for variant NM_000372.5(TYR):c.504C>T (p.Asn168=)

gnomAD frequency: 0.00051  dbSNP: rs148813091

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000288287	SCV000342303	uncertain significance	not provided	2016-05-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001113665	SCV001271456	uncertain significance	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000288287	SCV001726378	benign	not provided	2024-12-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001590907	SCV001821900	likely benign	Oculocutaneous albinism type 1A	2021-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543112	SCV004764484	benign	TYR-related disorder	2019-11-08	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).