ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=)

gnomAD frequency: 0.00004  dbSNP: rs774642602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498566 SCV001703316 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656487 SCV005161522 likely benign Inborn genetic diseases 2024-05-14 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. RCV001279962 SCV001467101 uncertain significance Dyskeratosis congenita 2020-08-27 no assertion criteria provided clinical testing

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