ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=)

dbSNP: rs776426684
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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 RCV001394178 SCV001595860 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-04-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831410 SCV002095552 likely benign Dyskeratosis congenita 2021-06-19 no assertion criteria provided clinical testing

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