ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=)

gnomAD frequency: 0.00004  dbSNP: rs201842671
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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 RCV001079249 SCV001126679 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000978745 SCV001153529 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416250 SCV002729134 likely benign Inborn genetic diseases 2020-07-21 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. RCV001277133 SCV001463961 likely benign Dyskeratosis congenita, autosomal dominant 1 2020-06-05 no assertion criteria provided clinical testing

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