ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=)

gnomAD frequency: 0.00001  dbSNP: rs760713860
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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 RCV000982799 SCV001130817 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259065 SCV002533602 likely benign Dyskeratosis congenita 2021-10-19 criteria provided, single submitter curation

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