Submissions for variant NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)

gnomAD frequency: 0.00317  dbSNP: rs199568537

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079445	SCV000111324	likely benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001107911	SCV000603409	likely benign	Asphyxiating thoracic dystrophy 3	2020-11-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000634189	SCV000755489	likely benign	Jeune thoracic dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107911	SCV001265098	benign	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001682767	SCV001898100	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24123776)
CeGaT Center for Human Genetics Tuebingen	RCV001682767	SCV004131356	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DYNC2H1: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001682767	SCV005217405	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003935028	SCV004754763	likely benign	DYNC2H1-related disorder	2021-02-11	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).