ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1595+1G>A

dbSNP: rs2145421181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002020146 SCV002296310 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-12 criteria provided, single submitter clinical testing

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