ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)

gnomAD frequency: 0.00001  dbSNP: rs797045923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192413 SCV000248742 uncertain significance not specified 2015-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000670442 SCV000795294 likely benign Dyskeratosis congenita, autosomal recessive 5 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001475667 SCV001679863 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-11-21 criteria provided, single submitter clinical testing

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