Submissions for variant NM_032588.4(TRIM63):c.597+7G>A

gnomAD frequency: 0.00210  dbSNP: rs150672089

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001724416	SCV002062416	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TRIM63: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001724416	SCV005264075	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703282	SCV001929562	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724416	SCV001957591	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724416	SCV001970068	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003948683	SCV004759856	benign	TRIM63-related disorder	2019-10-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).