Submissions for variant NM_001082486.2(ACD):c.132C>T (p.Gly44=)

gnomAD frequency: 0.00102  dbSNP: rs138527794

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502729	SCV000593013	benign	not specified	2019-03-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560459	SCV000656046	benign	Dyskeratosis congenita, autosomal dominant 6	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000560459	SCV002524368	benign	Dyskeratosis congenita, autosomal dominant 6	2021-12-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000502729	SCV002551730	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358384	SCV002620294	likely benign	Inborn genetic diseases	2022-02-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV003419854	SCV004139987	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ACD: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003419854	SCV005251460	benign	not provided		criteria provided, single submitter	not provided