Submissions for variant NM_001376.5(DYNC1H1):c.256+4C>T

gnomAD frequency: 0.00009  dbSNP: rs546058194

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000465196	SCV000527024	benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086614	SCV000559755	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318458	SCV000850662	benign	Inborn genetic diseases	2016-10-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV004999399	SCV001143806	benign	not specified	2024-09-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488930	SCV002795865	likely benign	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13	2022-05-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959933	SCV004769370	benign	DYNC1H1-related disorder	2023-05-31	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).