Submissions for variant NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)

dbSNP: rs797045268

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194869	SCV000246498	likely benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000194869	SCV000258160	uncertain significance	not specified	2015-07-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317667	SCV000849538	likely benign	Inborn genetic diseases	2018-07-14	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.
GeneDx	RCV001573495	SCV001852624	benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Invitae	RCV001573495	SCV002179595	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573495	SCV001799457	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573495	SCV001971597	likely benign	not provided		no assertion criteria provided	clinical testing