ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1574+7C>T

gnomAD frequency: 0.00030  dbSNP: rs375717504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529831 SCV000641285 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171088 SCV001333759 likely benign Cardiomyopathy 2018-07-04 criteria provided, single submitter clinical testing

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