ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1349-135G>C

gnomAD frequency: 0.81468  dbSNP: rs6062490
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534962 SCV001751933 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543198 SCV001761714 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543199 SCV001761715 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534962 SCV005314065 benign not provided criteria provided, single submitter not provided

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