ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=)

dbSNP: rs200709485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909933 SCV001054770 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382066 SCV002696364 likely benign Inborn genetic diseases 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001832048 SCV002095412 likely benign Dyskeratosis congenita 2020-02-10 no assertion criteria provided clinical testing

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