ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1595+9C>T

gnomAD frequency: 0.00022  dbSNP: rs370145267
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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 RCV000526812 SCV000653565 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256393 SCV002535293 likely benign Dyskeratosis congenita 2021-03-31 criteria provided, single submitter curation

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