ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.421A>G (p.Ser141Gly)

gnomAD frequency: 0.01220  dbSNP: rs61729806
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280905 SCV000408837 likely benign Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340550 SCV000408838 likely benign Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514424 SCV000609704 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000514424 SCV001104573 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278500 SCV002566486 benign Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing

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