ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2277G>A (p.Pro759=)

gnomAD frequency: 0.00001  dbSNP: rs768310963
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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 RCV001503248 SCV001708100 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704632 SCV005210182 likely benign not provided criteria provided, single submitter not provided

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