Submissions for variant NM_001376.5(DYNC1H1):c.962-15dup

dbSNP: rs3830914

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174069	SCV001337189	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662655	SCV001875797	benign	Charcot-Marie-Tooth disease axonal type 2O	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662656	SCV001875798	benign	Intellectual disability, autosomal dominant 13	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662654	SCV001875799	benign	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001529464	SCV001882953	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001662655	SCV002406206	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000611818	SCV000730825	benign	not specified	2018-03-09	flagged submission	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529464	SCV001742970	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000611818	SCV001922217	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000611818	SCV001971331	benign	not specified		no assertion criteria provided	clinical testing