Submissions for variant NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=)

gnomAD frequency: 0.00672  dbSNP: rs117178504

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205607	SCV000260368	benign	Jeune thoracic dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000500731	SCV000594463	likely benign	not specified	2016-04-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000500731	SCV000713948	benign	not specified	2018-02-08	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001801494	SCV002049784	benign	Asphyxiating thoracic dystrophy 3	2023-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795331	SCV004131359	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	DYNC2H1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795331	SCV002034297	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000500731	SCV002038076	benign	not specified		no assertion criteria provided	clinical testing