Submissions for variant NM_031418.4(ANO3):c.1915C>T (p.Leu639=)

gnomAD frequency: 0.00043  dbSNP: rs149866447

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001419684	SCV001621944	likely benign	Dystonic disorder	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000862058	SCV001867611	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260071	SCV002539167	benign	Dystonia 24	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000862058	SCV005224161	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000862058	SCV001741188	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000862058	SCV001973247	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908172	SCV004722512	likely benign	ANO3-related disorder	2020-01-10	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).