Submissions for variant NM_012144.4(DNAI1):c.1167C>T (p.Leu389=)

gnomAD frequency: 0.00002  dbSNP: rs756277063

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001279904	SCV001666021	likely benign	Primary ciliary dyskinesia	2023-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001279904	SCV005578501	likely benign	Primary ciliary dyskinesia	2024-11-12	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.	RCV001279904	SCV001467041	likely benign	Primary ciliary dyskinesia	2020-10-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004754719	SCV005359727	likely benign	DNAI1-related disorder	2024-04-24	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).