ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3006G>A (p.Pro1002=)

dbSNP: rs201351158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651135 SCV000772985 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV002469235 SCV002765833 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002469235 SCV004698522 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7

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