ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.*143G>A

gnomAD frequency: 0.00217  dbSNP: rs28730709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002469138 SCV000482939 likely benign Caudal regression sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295342 SCV000482940 likely benign Neural tube defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100359 SCV001256878 benign Catecholaminergic polymorphic ventricular tachycardia 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004711022 SCV005261514 likely benign not provided criteria provided, single submitter not provided

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