Submissions for variant NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)

gnomAD frequency: 0.00003  dbSNP: rs760532492

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194255	SCV000247199	uncertain significance	not specified	2014-10-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000194255	SCV000721356	likely benign	not specified	2017-07-21	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.
Invitae	RCV000868554	SCV001009895	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408856	SCV002715318	likely benign	Inborn genetic diseases	2019-02-09	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736629	SCV004564727	likely benign	not provided	2023-03-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955149	SCV004778331	likely benign	DYNC1H1-related condition	2024-01-22	criteria provided, single submitter	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).