Submissions for variant NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)

gnomAD frequency: 0.00244  dbSNP: rs17849504

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524922	SCV000654867	benign	Short-rib thoracic dysplasia 11 with or without polydactyly	2025-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001584336	SCV001818212	likely benign	not provided	2020-04-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32576942)
Fulgent Genetics, Fulgent Genetics	RCV000524922	SCV002804666	likely benign	Short-rib thoracic dysplasia 11 with or without polydactyly	2022-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001584336	SCV004156435	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	DYNC2I2: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001584336	SCV005225830	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003980019	SCV004792792	likely benign	DYNC2I2-related disorder	2019-03-27	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).