ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)

dbSNP: rs199422252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000032187 SCV002053757 pathogenic Dyskeratosis congenita, X-linked criteria provided, single submitter clinical testing
GeneReviews RCV000032187 SCV000055775 not provided Dyskeratosis congenita, X-linked no assertion provided literature only
Institutes of Biomedical Sciences, Shanxi University RCV000032187 SCV002097631 benign Dyskeratosis congenita, X-linked no assertion criteria provided clinical testing

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