ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.*1017del

dbSNP: rs11347859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363599 SCV000347660 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002469118 SCV000482933 likely benign Caudal regression sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269640 SCV000482934 likely benign Neural tube defect 2016-06-14 criteria provided, single submitter clinical testing

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