ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=)

gnomAD frequency: 0.00001  dbSNP: rs368388044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673673 SCV000798901 likely benign Dyskeratosis congenita, autosomal recessive 5 2018-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478921 SCV001683200 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-02-28 criteria provided, single submitter clinical testing

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