ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)

gnomAD frequency: 0.00061  dbSNP: rs146000214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353342 SCV000336737 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321281 SCV000408809 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378341 SCV000408810 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000353342 SCV001102336 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004021154 SCV004719327 likely benign DYM-related disorder 2019-10-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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