Submissions for variant NM_000053.4(ATP7B):c.1707+9T>C

gnomAD frequency: 0.01274  dbSNP: rs114449708

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029353	SCV000051999	benign	Wilson disease	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences	RCV000249095	SCV000301696	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000249095	SCV000521844	benign	not specified	2016-02-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029353	SCV000626832	benign	Wilson disease	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029353	SCV001268682	benign	Wilson disease	2018-01-23	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000029353	SCV001473231	benign	Wilson disease	2023-11-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000029353	SCV002805041	benign	Wilson disease	2021-07-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579397	SCV005230377	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000029353	SCV001463848	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579397	SCV001807085	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249095	SCV001919810	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579397	SCV001977908	likely benign	not provided		no assertion criteria provided	clinical testing