ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.879T>C (p.Gly293=)

gnomAD frequency: 0.05825  dbSNP: rs6010616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531037 SCV000653588 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 RCV001613364 SCV001841007 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613364 SCV005314054 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276034 SCV001461862 benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing

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