Submissions for variant NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)

gnomAD frequency: 0.00344  dbSNP: rs202082545

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000371754	SCV000366645	uncertain significance	Jeune thoracic dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260715	SCV000366646	uncertain significance	Short rib-polydactyly syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000371754	SCV000557932	benign	Jeune thoracic dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000605993	SCV000729631	benign	not specified	2017-11-27	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.
Eurofins Ntd Llc (ga)	RCV000605993	SCV000856524	benign	not specified	2017-08-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003615834	SCV001159428	benign	Asphyxiating thoracic dystrophy 3	2023-11-29	criteria provided, single submitter	clinical testing