ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)

dbSNP: rs3848672
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520781 SCV001729970 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543255 SCV001761782 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543256 SCV001761783 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001724285 SCV001949873 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003490166 SCV004233251 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 60% of patients studied by a panel of primary immunodeficiencies. Number of patients: 57. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001724285 SCV005314087 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001279968 SCV001467107 benign Dyskeratosis congenita 2020-08-28 no assertion criteria provided clinical testing

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