ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2109G>A (p.Gln703=)

gnomAD frequency: 0.00001  dbSNP: rs764545169
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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 RCV001445831 SCV001648869 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004571008 SCV005051265 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7
Ambry Genetics RCV004952903 SCV005492734 likely benign Inborn genetic diseases 2024-11-30 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.

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