ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.-19C>T

gnomAD frequency: 0.50257  dbSNP: rs1061063
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282177 SCV000437407 benign CEDNIK syndrome 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000282177 SCV000744132 benign CEDNIK syndrome 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV001672608 SCV001885842 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000282177 SCV002057503 benign CEDNIK syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000433662 SCV000514715 benign not specified 2015-07-06 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000282177 SCV000734120 benign CEDNIK syndrome no assertion criteria provided clinical testing

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