ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.246G>A (p.Pro82=)

gnomAD frequency: 0.00004  dbSNP: rs775247678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976975 SCV001124886 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273112 SCV001455712 uncertain significance Dyskeratosis congenita 2020-03-11 no assertion criteria provided clinical testing

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