ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.164T>A (p.Leu55Gln) (rs387907247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032368 SCV000056024 pathologic Idiopathic fibrosing alveolitis, chronic form 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000030626 SCV000053304 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2007-03-29 no assertion criteria provided literature only

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