ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2583-2A>C (rs111576740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030625 SCV000053303 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2007-03-29 no assertion criteria provided literature only
GeneReviews RCV000032386 SCV000056042 pathologic Idiopathic fibrosing alveolitis, chronic form 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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