ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.386G>A (p.Arg129Gln)

gnomAD frequency: 0.00001  dbSNP: rs749155619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171908 SCV000055161 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000171908 SCV000928030 uncertain significance not provided 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170911 SCV001333549 uncertain significance Cardiomyopathy 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV002517657 SCV003452250 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-02-19 criteria provided, single submitter clinical testing

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