ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3003G>A (p.Ala1001=)

gnomAD frequency: 0.00006  dbSNP: rs368070468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504505 SCV000596828 likely benign not specified 2015-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000897537 SCV001041685 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319510 SCV002608632 likely benign Inborn genetic diseases 2019-06-10 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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