Submissions for variant NM_015141.4(GPD1L):c.459C>T (p.Asn153=)

gnomAD frequency: 0.00019  dbSNP: rs375532052

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087582	SCV000637057	likely benign	Brugada syndrome	2024-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000841399	SCV000983362	likely benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341309	SCV002637566	likely benign	Cardiovascular phenotype	2020-02-27	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	RCV002506329	SCV002805107	likely benign	Brugada syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700203	SCV001919362	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700203	SCV001926629	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000841399	SCV001959049	likely benign	not provided		no assertion criteria provided	clinical testing