ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1266+11C>T

gnomAD frequency: 0.00001  dbSNP: rs2090575166
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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 RCV002109700 SCV002393440 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002109700 SCV002798923 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-08-10 criteria provided, single submitter clinical testing

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