Submissions for variant NM_001377.3(DYNC2H1):c.11256+18C>T

gnomAD frequency: 0.16562  dbSNP: rs11225674

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000286671	SCV000343760	benign	not specified	2016-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000286671	SCV000516336	benign	not specified	2016-03-03	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.
Genome-Nilou Lab	RCV001660556	SCV001875837	benign	Asphyxiating thoracic dystrophy 3	2021-07-30	criteria provided, single submitter	clinical testing
Invitae	RCV002059265	SCV002362492	benign	Jeune thoracic dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000286671	SCV001955130	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000286671	SCV001968263	benign	not specified		no assertion criteria provided	clinical testing