Submissions for variant NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)

gnomAD frequency: 0.00151  dbSNP: rs140830294

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179614	SCV000231887	benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355641	SCV000366785	uncertain significance	Jeune thoracic dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263282	SCV000366786	uncertain significance	Short rib-polydactyly syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000179614	SCV000714577	benign	not specified	2017-04-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000355641	SCV001131891	benign	Jeune thoracic dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000179614	SCV001159348	likely benign	not specified	2018-09-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884378	SCV004701450	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DYNC2H1: BS1, BS2