ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)

dbSNP: rs115464632
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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 RCV000939355 SCV001085197 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-06-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001272188 SCV002533562 likely benign Dyskeratosis congenita 2021-09-15 criteria provided, single submitter curation
Ambry Genetics RCV002434276 SCV002749186 likely benign Inborn genetic diseases 2020-12-30 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. RCV001272188 SCV001453918 uncertain significance Dyskeratosis congenita 2020-01-24 no assertion criteria provided clinical testing

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