ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.312G>A (p.Thr104=)

dbSNP: rs1348086708
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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 RCV000651086 SCV000772936 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829807 SCV002095356 uncertain significance Dyskeratosis congenita 2020-10-10 no assertion criteria provided clinical testing

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