ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1637-50A>C

dbSNP: rs2777941
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543204 SCV001761720 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543205 SCV001761721 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001638137 SCV001852042 benign not provided 2019-03-31 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487460 SCV004232947 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 89% of patients studied by a panel of primary immunodeficiencies. Number of patients: 85. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001638137 SCV005314070 benign not provided criteria provided, single submitter not provided

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