ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=)

gnomAD frequency: 0.00008  dbSNP: rs757231662
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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 RCV001477385 SCV001681624 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438821 SCV004150981 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7
Ambry Genetics RCV004952932 SCV005492515 likely benign Inborn genetic diseases 2024-11-17 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. RCV001832623 SCV002095423 likely benign Dyskeratosis congenita 2021-10-15 no assertion criteria provided clinical testing

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