ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3213G>A (p.Leu1071=)

gnomAD frequency: 0.00001  dbSNP: rs1209413497
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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 RCV002166140 SCV002425698 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-07-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438956 SCV004150998 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7

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