ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1267-6C>T

gnomAD frequency: 0.00002  dbSNP: rs779075624
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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 RCV001505938 SCV001710853 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275089 SCV001459843 uncertain significance Dyskeratosis congenita 2020-03-10 no assertion criteria provided clinical testing

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