ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=)

gnomAD frequency: 0.00001  dbSNP: rs1331174859
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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 RCV000929687 SCV001075322 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832109 SCV002095524 likely benign Dyskeratosis congenita 2020-10-28 no assertion criteria provided clinical testing

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