ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1728+2T>C

gnomAD frequency: 0.00001  dbSNP: rs2087482291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV001352909 SCV001547531 likely pathogenic Dyggve-Melchior-Clausen syndrome 2020-10-01 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001352909 SCV002507144 pathogenic Dyggve-Melchior-Clausen syndrome 2022-05-09 criteria provided, single submitter clinical testing

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