ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2851+8G>C

gnomAD frequency: 0.00035  dbSNP: rs376962635
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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 RCV001461310 SCV001665209 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826290 SCV002095503 likely benign Dyskeratosis congenita 2019-10-23 no assertion criteria provided clinical testing

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