Submissions for variant NM_001377.3(DYNC2H1):c.12366+8A>G

gnomAD frequency: 0.00156  dbSNP: rs200404815

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000270085	SCV000366869	uncertain significance	Short rib-polydactyly syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308814	SCV000366870	uncertain significance	Jeune thoracic dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000308814	SCV001119035	benign	Jeune thoracic dystrophy	2019-12-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820801	SCV002070155	likely benign	not specified	2020-02-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909898	SCV004723216	likely benign	DYNC2H1-related disorder	2019-06-19	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).
Clinical Genetics, Erasmus University Medical Center	RCV000508628	SCV000328920	uncertain significance	Hirschsprung disease, susceptibility to, 1	2016-11-18	no assertion criteria provided	clinical testing