ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2142-3del

dbSNP: rs755965232
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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 RCV001512710 SCV001720170 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-08-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255678 SCV002535308 uncertain significance Dyskeratosis congenita 2022-01-06 criteria provided, single submitter curation

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