Submissions for variant NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)

gnomAD frequency: 0.00827  dbSNP: rs77289466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252589	SCV000311947	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391294	SCV000471979	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551113	SCV000652496	benign	Primary ciliary dyskinesia 19	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV002285295	SCV002575136	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV000391294	SCV002755802	benign	Primary ciliary dyskinesia	2017-04-03	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002285295	SCV004563236	benign	not provided	2023-08-21	criteria provided, single submitter	clinical testing