ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.692A>T (p.Asp231Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV004560353 SCV005046989 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 criteria provided, single submitter clinical testing

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