ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1177_1178del (p.His393fs)

dbSNP: rs2517730377
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Total submissions: 1
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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 RCV002281596 SCV002569960 pathogenic Dyggve-Melchior-Clausen syndrome no assertion criteria provided clinical testing

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