ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.786G>A (p.Ser262=)

gnomAD frequency: 0.04839  dbSNP: rs6011020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554878 SCV000653587 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692187 SCV001909198 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692187 SCV005314053 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001692187 SCV005878520 benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276032 SCV001461860 benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing

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