ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.614+1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466277 SCV004209786 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2023-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005030048 SCV005660954 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-24 criteria provided, single submitter clinical testing

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