ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.116C>T (rs199422272)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032559 SCV000056231 pathologic Dyskeratosis congenita autosomal dominant 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000007750 SCV000027951 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 2003-11-15 no assertion criteria provided literature only

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