Submissions for variant NM_001371986.1(UNC80):c.1620C>G (p.Ser540=)

gnomAD frequency: 0.00381  dbSNP: rs182186415

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970917	SCV001118523	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000970917	SCV004148483	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	UNC80: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000970917	SCV005240950	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000970917	SCV002035681	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000970917	SCV002037654	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535958	SCV004745922	likely benign	UNC80-related disorder	2022-11-17	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).