ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5016G>A (p.Gln1672=)

dbSNP: rs1759428613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170145 SCV001332690 likely benign Cardiomyopathy 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769834 SCV004578167 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-09-10 criteria provided, single submitter clinical testing

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