Submissions for variant NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)

gnomAD frequency: 0.00679  dbSNP: rs147189192

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558041	SCV000656040	benign	Dyskeratosis congenita, autosomal dominant 6	2024-01-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821640	SCV002064750	benign	not specified	2018-10-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000558041	SCV002524364	benign	Dyskeratosis congenita, autosomal dominant 6	2021-12-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821640	SCV002551710	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002330969	SCV002634425	likely benign	Inborn genetic diseases	2021-06-30	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004710137	SCV005249240	benign	not provided		criteria provided, single submitter	not provided