ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.700-115G>A

gnomAD frequency: 0.44984  dbSNP: rs6062300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539028 SCV001756759 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543190 SCV001761706 benign Dyskeratosis congenita, autosomal recessive 5 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543191 SCV001761707 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539028 SCV005314046 benign not provided criteria provided, single submitter not provided

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