ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2178G>A (p.Thr726=) (rs199422288)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473799 SCV000561771 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000032379 SCV000056035 benign Dyskeratosis congenita autosomal dominant 2012-05-10 no assertion criteria provided curation Converted during submission to Benign.

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