ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1914G>C (p.Val638=)

gnomAD frequency: 0.03859  dbSNP: rs60818038
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381595 SCV000408813 likely benign Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289660 SCV000408814 likely benign Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512745 SCV001720205 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001512745 SCV001886840 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278499 SCV002566480 benign Connective tissue disorder 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512745 SCV005215416 likely benign not provided criteria provided, single submitter not provided

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