ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)

gnomAD frequency: 0.00006  dbSNP: rs779748543
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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 RCV000924556 SCV001070070 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001832086 SCV002535282 likely benign Dyskeratosis congenita 2021-03-18 criteria provided, single submitter curation
Ambry Genetics RCV003307695 SCV003999466 likely benign Inborn genetic diseases 2023-05-14 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. RCV001832086 SCV002095342 likely benign Dyskeratosis congenita 2020-09-10 no assertion criteria provided clinical testing

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