Submissions for variant NM_001369.3(DNAH5):c.2578-7del

dbSNP: rs71600031

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469379	SCV000558032	benign	not provided	2018-07-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000469379	SCV001900385	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001274356	SCV004848995	likely benign	Primary ciliary dyskinesia	2015-08-05	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.	RCV001274356	SCV001458415	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000469379	SCV001800102	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701015	SCV001927024	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701015	SCV001966300	benign	not specified		no assertion criteria provided	clinical testing