Submissions for variant NM_003114.5(SPAG1):c.1314C>T (p.Gly438=)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003742258	SCV004460621	likely benign	Primary ciliary dyskinesia 28	2024-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004371861	SCV005030889	likely benign	Primary ciliary dyskinesia	2023-12-11	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.
Fulgent Genetics, Fulgent Genetics	RCV003742258	SCV005669603	uncertain significance	Primary ciliary dyskinesia 28	2024-05-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909086	SCV004719645	likely benign	VPS13B-related disorder	2023-08-25	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).