ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.342G>A (p.Leu114=)

gnomAD frequency: 0.00822  dbSNP: rs35357262
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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 RCV000393797 SCV000408839 likely benign Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305151 SCV000408840 likely benign Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511130 SCV001718321 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001511130 SCV001934805 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278501 SCV002566485 benign Connective tissue disorder 2022-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511130 SCV005215418 likely benign not provided criteria provided, single submitter not provided

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