ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.*1123_*1124del

gnomAD frequency: 0.23414  dbSNP: rs56839330
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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 RCV000366862 SCV000347657 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002469117 SCV000482931 likely benign Caudal regression sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304854 SCV000482932 likely benign Neural tube defect 2016-06-14 criteria provided, single submitter clinical testing

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