ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3023T>G (p.Val1008Gly)

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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 RCV005032646 SCV005663963 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-04-24 criteria provided, single submitter clinical testing

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