ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=)

gnomAD frequency: 0.00004  dbSNP: rs767770069
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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 RCV000651137 SCV000772987 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151122 SCV003840004 likely benign not specified 2022-07-22 no assertion criteria provided clinical testing

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