Submissions for variant NM_006265.3(RAD21):c.-32-1G>A

gnomAD frequency: 0.00125  dbSNP: rs16889042

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514763	SCV000610633	likely benign	not provided	2017-06-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000605793	SCV000714753	likely benign	not specified	2017-05-15	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.
Fulgent Genetics, Fulgent Genetics	RCV002506243	SCV002810135	likely benign	Mungan syndrome; Cornelia de Lange syndrome 4	2021-08-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514763	SCV001744211	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514763	SCV001797964	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514763	SCV001975210	likely benign	not provided		no assertion criteria provided	clinical testing