ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.*632G>C

gnomAD frequency: 0.65651  dbSNP: rs1140238
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328082 SCV000347662 benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002469119 SCV000482935 likely benign Caudal regression sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383752 SCV000482936 likely benign Neural tube defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098590 SCV001254972 benign Catecholaminergic polymorphic ventricular tachycardia 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Breakthrough Genomics, Breakthrough Genomics RCV004710715 SCV005261512 likely benign not provided criteria provided, single submitter not provided

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