ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.903G>A (p.Ala301=)

gnomAD frequency: 0.00004  dbSNP: rs377191081
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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 RCV000936041 SCV001081801 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-06-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255586 SCV002535810 likely benign Dyskeratosis congenita 2020-11-25 criteria provided, single submitter curation

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