ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.228G>A (rs141686314)

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Total submissions: 5
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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 2019-12-31 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
GeneReviews RCV000032566 SCV000056238 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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