ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=)

gnomAD frequency: 0.00001  dbSNP: rs767648957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501401 SCV000596838 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451786 SCV001655427 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-06-02 criteria provided, single submitter clinical testing

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