Submissions for variant NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)

gnomAD frequency: 0.00006  dbSNP: rs546721020

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780931	SCV000918592	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000943904	SCV001089861	benign	Wilson disease	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000943904	SCV001267648	uncertain significance	Wilson disease	2017-11-16	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.
Genome-Nilou Lab	RCV000943904	SCV001977527	likely benign	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000943904	SCV004844520	likely benign	Wilson disease	2023-11-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000943904	SCV002086783	likely benign	Wilson disease	2020-03-19	no assertion criteria provided	clinical testing