Submissions for variant NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)

gnomAD frequency: 0.00029  dbSNP: rs372456815

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145272	SCV000192342	uncertain significance	Wilson disease	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001707533	SCV000721497	likely benign	not provided	2019-12-19	criteria provided, single submitter	clinical testing
Invitae	RCV000145272	SCV000752261	likely benign	Wilson disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000145272	SCV001977132	likely benign	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321620	SCV002607298	likely benign	Inborn genetic diseases	2022-02-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001707533	SCV002035210	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001707533	SCV002037888	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000145272	SCV002086817	likely benign	Wilson disease	2020-01-30	no assertion criteria provided	clinical testing