ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.766-19G>A

gnomAD frequency: 0.25212  dbSNP: rs2297437
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590418 SCV000699753 benign not provided 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The RTEL1 c.838-19G>A variant involves the alteration of a non-conserved intronic nucleotide that 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 29035/116556 control chromosomes (4098 homozygotes) at a frequency of 0.2491077, which is approximately 223 times the estimated maximal expected allele frequency of a pathogenic RTEL1 variant (0.001118), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522271 SCV001731786 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
Genome-Nilou Lab RCV001543192 SCV001761708 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543193 SCV001761709 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000590418 SCV001852602 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488710 SCV004233367 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 51% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000590418 SCV005314052 benign not provided criteria provided, single submitter not provided

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