Submissions for variant NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)

gnomAD frequency: 0.00255  dbSNP: rs202233363

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000289184	SCV000341951	likely benign	not specified	2016-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001718586	SCV000714048	benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860672	SCV001000797	benign	Jeune thoracic dystrophy	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105762	SCV001262759	uncertain significance	Asphyxiating thoracic dystrophy 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001105762	SCV002048997	likely benign	Asphyxiating thoracic dystrophy 3	2023-10-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000289184	SCV002065951	uncertain significance	not specified	2018-04-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940047	SCV004753301	likely benign	DYNC2H1-related disorder	2020-05-28	no assertion criteria provided	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).