ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.107_108delGCinsAG

dbSNP: rs199476393
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007745 SCV000027946 pathogenic Dyskeratosis congenita, autosomal dominant 1 2001-09-27 no assertion criteria provided literature only
GeneReviews RCV000007745 SCV000058253 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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