ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.102+3AG[3]

dbSNP: rs1555899112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674629 SCV000799999 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498303 SCV001703050 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-29 criteria provided, single submitter clinical testing

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