ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.58G>A (rs113487931)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229649 SCV000291920 benign Dyskeratosis congenita, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000421480 SCV000514876 benign not specified 2016-04-27 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000421480 SCV000605357 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000421480 SCV000711359 benign not specified 2017-12-26 criteria provided, single submitter clinical testing c.58G>A in TERC: This variant is not expected to have clinical significance beca use it has been identified in 5.6% (1269/22484) of African chromosomes by the Ge nome Aggregation Database (gnomAD,; dbSNP rs113 4787931). In addition, in vitro functional assays of telomerase activity show no loss of function with this variant (Ly 2003, Marrone 2004). ACMG/AMP Criteria a pplied: BA1, BS3.
OMIM RCV000007747 SCV000027948 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 2002-06-22 no assertion criteria provided literature only
GeneReviews RCV000032580 SCV000056253 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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