ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1349-10C>T

gnomAD frequency: 0.00001  dbSNP: rs769533263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415055 SCV001617204 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-09-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057381 SCV005725902 likely benign not specified 2024-11-29 criteria provided, single submitter clinical testing

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