ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.395+8A>G

dbSNP: rs992952054
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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 RCV001505391 SCV001710292 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704635 SCV005210163 likely benign not provided criteria provided, single submitter not provided

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