Submissions for variant NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=)

gnomAD frequency: 0.00113  dbSNP: rs61734271

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517800	SCV001726374	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001517800	SCV004700306	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ZNF341: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001517800	SCV005315125	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001517800	SCV001927641	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001517800	SCV001971872	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908852	SCV004726619	likely benign	ZNF341-related disorder	2019-06-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).