ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)

dbSNP: rs116624637
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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 RCV001445507 SCV001648539 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-11-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820138 SCV002065265 likely benign not specified 2021-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456749 SCV002736317 likely benign Inborn genetic diseases 2022-05-11 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. RCV001826266 SCV002095350 likely benign Dyskeratosis congenita 2021-06-07 no assertion criteria provided clinical testing

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