ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2196C>T (p.Val732=)

gnomAD frequency: 0.00001  dbSNP: rs1315335415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098647 SCV002399567 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-01-27 criteria provided, single submitter clinical testing

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