ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.615-149C>G

dbSNP: rs7261546
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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 RCV001543340 SCV001761891 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543341 SCV001761892 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001619956 SCV001846116 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619956 SCV005314044 benign not provided criteria provided, single submitter not provided

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