ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.538+160A>T

gnomAD frequency: 0.81932  dbSNP: rs6010998
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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 RCV001543338 SCV001761889 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543339 SCV001761890 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001694063 SCV001913640 benign not provided 2019-03-31 criteria provided, single submitter clinical testing

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