ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2992+8G>A

dbSNP: rs1236751268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990341 SCV001141284 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001490728 SCV001695299 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-03-18 criteria provided, single submitter clinical testing

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