ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1293-14A>G

dbSNP: rs752527636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772993 SCV000906375 likely benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999998 SCV004819918 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092248 SCV005778648 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529731 SCV001743696 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701155 SCV001922566 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529731 SCV001930208 likely benign not provided no assertion criteria provided clinical testing

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