ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=)

dbSNP: rs1601194528
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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 RCV001406055 SCV001608003 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272193 SCV001453923 uncertain significance Dyskeratosis congenita 2020-03-17 no assertion criteria provided clinical testing

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