ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) (rs1196160200)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stem Cell Engineering Center,Hunan Guangxiu Hospital RCV000786863 SCV000925760 pathogenic Dyskeratosis congenita 2018-10-08 no assertion criteria provided research

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