ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2852-12C>T

dbSNP: rs745776915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259235 SCV002533559 uncertain significance Dyskeratosis congenita 2022-01-25 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003101421 SCV003266288 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-24 criteria provided, single submitter clinical testing

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