ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.3259-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1057523095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422120 SCV000530707 likely benign not specified 2016-08-08 criteria provided, single submitter 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.
Invitae RCV000869161 SCV001010566 likely benign Dilated cardiomyopathy 1W 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446723 SCV002611414 uncertain significance Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The c.3259-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 22 in the VCL gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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