ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=)

gnomAD frequency: 0.00006  dbSNP: rs146662746
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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 RCV001462837 SCV001666764 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-09-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256785 SCV002533551 likely benign Dyskeratosis congenita 2020-10-26 criteria provided, single submitter curation

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