ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)

gnomAD frequency: 0.00020  dbSNP: rs78258482
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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 RCV000907680 SCV001052402 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001277125 SCV002535292 likely benign Dyskeratosis congenita 2022-02-05 criteria provided, single submitter curation
Natera, Inc. RCV001277125 SCV001463953 uncertain significance Dyskeratosis congenita 2019-12-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541925 SCV004768635 likely benign RTEL1-related disorder 2020-01-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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