ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=)

dbSNP: rs1601170877
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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 RCV000931087 SCV001076750 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272650 SCV001454889 likely benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing

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