ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=)

gnomAD frequency: 0.00009  dbSNP: rs147245368
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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 RCV000912530 SCV001057640 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256595 SCV002535326 likely benign Dyskeratosis congenita 2021-08-25 criteria provided, single submitter curation
Ambry Genetics RCV003169288 SCV003882103 likely benign Inborn genetic diseases 2022-12-09 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704311 SCV005210184 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277144 SCV001463972 likely benign Dyskeratosis congenita, autosomal dominant 1 2020-04-30 no assertion criteria provided clinical testing

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