ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005032649 SCV005663982 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-28 criteria provided, single submitter clinical testing

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