Submissions for variant NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)

gnomAD frequency: 0.00020  dbSNP: rs200731839

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231116	SCV000287109	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001697256	SCV000532896	likely benign	not provided	2019-04-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22368300, 32376792)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697256	SCV002506292	likely benign	not provided	2022-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002378983	SCV002696455	likely benign	Inborn genetic diseases	2018-03-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001697256	SCV004135210	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BS1
Clinical Genetics, Academic Medical Center	RCV001697256	SCV001924669	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001697256	SCV001926483	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697256	SCV001968434	likely benign	not provided		no assertion criteria provided	clinical testing