ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1395C>T (p.His465=)

gnomAD frequency: 0.00009  dbSNP: rs376423914
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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 RCV001503666 SCV001708522 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-11-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001275093 SCV002535287 likely benign Dyskeratosis congenita 2022-01-09 criteria provided, single submitter curation
Ambry Genetics RCV004659277 SCV005161500 likely benign Inborn genetic diseases 2024-05-23 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. RCV001275093 SCV001459847 uncertain significance Dyskeratosis congenita 2020-03-11 no assertion criteria provided clinical testing

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