ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.959-9G>A

gnomAD frequency: 0.00008  dbSNP: rs373436285
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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 RCV000912847 SCV001057970 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832058 SCV002095396 likely benign Dyskeratosis congenita 2020-02-07 no assertion criteria provided clinical testing

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