Submissions for variant NM_023036.6(DNAI2):c.855G>A (p.Thr285=)

gnomAD frequency: 0.00008  dbSNP: rs144909415

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001242399	SCV001415485	likely benign	Primary ciliary dyskinesia	2024-08-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001242399	SCV005028107	likely benign	Primary ciliary dyskinesia	2023-11-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001242399	SCV002088858	uncertain significance	Primary ciliary dyskinesia	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918798	SCV004729833	likely benign	DNAI2-related disorder	2019-05-09	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).