ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.959-9G>C

dbSNP: rs373436285
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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 RCV001399910 SCV001601711 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2019-09-14 criteria provided, single submitter clinical testing

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