ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)

gnomAD frequency: 0.00567  dbSNP: rs115423936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504012 SCV000596842 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000532468 SCV000653568 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002244974 SCV002512980 likely benign not provided 2021-08-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002413379 SCV002714994 likely benign Inborn genetic diseases 2021-09-15 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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