ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1596-9C>T

gnomAD frequency: 0.00014  dbSNP: rs200803729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651139 SCV000772989 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-02 criteria provided, single submitter clinical testing
Counsyl RCV000671588 SCV000796576 benign Dyskeratosis congenita, autosomal recessive 5 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001672916 SCV001887834 benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672916 SCV005314068 benign not provided criteria provided, single submitter not provided

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