Submissions for variant NM_001376.5(DYNC1H1):c.8637+9C>T

gnomAD frequency: 0.00004  dbSNP: rs202042156

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000607810	SCV000718388	likely benign	not specified	2017-11-24	criteria provided, single submitter	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000649596	SCV000771425	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-11-04	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173188	SCV001336268	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000607810	SCV002069028	uncertain significance	not specified	2018-09-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004745503	SCV005347693	likely benign	DYNC1H1-related disorder	2024-09-06	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).