ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.594C>G (p.Val198=)

dbSNP: rs774564498
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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 RCV000908535 SCV001053305 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275076 SCV001459830 likely benign Dyskeratosis congenita, autosomal dominant 1 2020-04-30 no assertion criteria provided clinical testing

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