Submissions for variant NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)

dbSNP: rs864309616

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202959	SCV000258162	uncertain significance	not specified	2015-06-19	criteria provided, single submitter	clinical testing
Invitae	RCV001573694	SCV002449618	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517354	SCV003679071	likely benign	Inborn genetic diseases	2021-10-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573694	SCV001799938	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573694	SCV001807573	uncertain significance	not provided		no assertion criteria provided	clinical testing