ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1636+29C>G

gnomAD frequency: 0.14402  dbSNP: rs2777940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543202 SCV001761718 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543203 SCV001761719 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655838 SCV001863731 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655838 SCV005314069 benign not provided criteria provided, single submitter not provided

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