ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3344-6C>G

gnomAD frequency: 0.00001  dbSNP: rs1455821579
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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 RCV000694459 SCV000822907 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825356 SCV002095557 uncertain significance Dyskeratosis congenita 2019-11-11 no assertion criteria provided clinical testing

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