ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=)

gnomAD frequency: 0.00001  dbSNP: rs749496657
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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 RCV001425787 SCV001628425 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV003229055 SCV003926301 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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