ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3507A>G (p.Ser1169=)

dbSNP: rs2145479135
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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 RCV002220030 SCV002379227 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-02-08 criteria provided, single submitter clinical testing

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