ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1285G>T (p.Glu429Ter)

dbSNP: rs1561213553
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267801 SCV001424119 pathogenic Dyskeratosis congenita, autosomal dominant 2 2020-05-21 no assertion criteria provided clinical testing

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