ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.147G>A (p.Thr49=)

gnomAD frequency: 0.00004  dbSNP: rs114124243
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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 RCV000924764 SCV001070286 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832087 SCV002095345 likely benign Dyskeratosis congenita 2020-12-21 no assertion criteria provided clinical testing

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