ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1443G>A (p.Thr481=)

gnomAD frequency: 0.00004  dbSNP: rs762716598
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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 RCV000899730 SCV001044015 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432888 SCV004150980 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7

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