ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.396-7C>T

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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 RCV002867523 SCV003237527 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003435830 SCV004150972 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing RTEL1: PM2, BP4

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