ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1267-17G>A

gnomAD frequency: 0.00006  dbSNP: rs558289937
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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 RCV002116030 SCV002407464 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232852 SCV005877401 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing

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