Submissions for variant NR_001566.3(TERC):n.228G>A

gnomAD frequency: 0.00478  dbSNP: rs141686314

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224681	SCV000281359	likely benign	not provided	2016-05-03	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000436748	SCV000533482	likely benign	not specified	2016-11-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000032566	SCV000561688	benign	Dyskeratosis congenita, autosomal dominant 1	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000436748	SCV000605356	benign	not specified	2017-01-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000436748	SCV002071017	benign	not specified	2017-12-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496490	SCV002811803	likely benign	Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	2021-07-02	criteria provided, single submitter	clinical testing
GeneReviews	RCV000032566	SCV000056238	pathologic	Dyskeratosis congenita, autosomal dominant 1	2012-05-10	no assertion criteria provided	curation	Converted during submission to Pathogenic.