ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1266+9C>T

dbSNP: rs1601156030
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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 RCV001491895 SCV001696500 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533606 SCV004749776 uncertain significance RTEL1-related disorder 2024-01-03 no assertion criteria provided clinical testing The RTEL1 c.1338+9C>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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