ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=)

dbSNP: rs929062749
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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 RCV001404624 SCV001606529 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826204 SCV002095495 likely benign Dyskeratosis congenita 2021-06-10 no assertion criteria provided clinical testing

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