ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.582T>C (p.Ile194=)

gnomAD frequency: 0.08708  dbSNP: rs73920935
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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 RCV001521705 SCV001731095 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 RCV001685410 SCV001896820 benign not provided 2019-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685410 SCV005314042 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001826383 SCV002095373 benign Dyskeratosis congenita 2019-10-16 no assertion criteria provided clinical testing

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