ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp)

gnomAD frequency: 0.00579  dbSNP: rs115464632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504307 SCV000596825 benign not specified 2018-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535061 SCV000653577 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230982 SCV005878892 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829430 SCV002095505 likely benign Dyskeratosis congenita 2019-12-18 no assertion criteria provided clinical testing

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