ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=)

gnomAD frequency: 0.00005  dbSNP: rs553627522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955848 SCV001102581 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531530 SCV001746718 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001531530 SCV005210180 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004958325 SCV005492477 likely benign Inborn genetic diseases 2024-10-02 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. RCV001277132 SCV001463960 uncertain significance Dyskeratosis congenita 2020-01-24 no assertion criteria provided clinical testing

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