ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.395+164T>C

gnomAD frequency: 0.81920  dbSNP: rs2297433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543334 SCV001761885 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543335 SCV001761886 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001638139 SCV001847954 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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