ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2852-16G>A

gnomAD frequency: 0.00649  dbSNP: rs143229960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516378 SCV001724651 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001587450 SCV001826420 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing

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