ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.103-13G>A

gnomAD frequency: 0.00003  dbSNP: rs183862736
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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 RCV002111577 SCV002392386 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258381 SCV002535279 uncertain significance Dyskeratosis congenita 2021-12-02 criteria provided, single submitter curation

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