ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.321G>A (p.Leu107=)

gnomAD frequency: 0.00032  dbSNP: rs16950519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341380 SCV000408841 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402458 SCV000408842 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000907132 SCV001051820 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278502 SCV002566484 likely benign Connective tissue disorder 2021-07-16 criteria provided, single submitter clinical testing

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