ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4122+4C>A

gnomAD frequency: 0.00001  dbSNP: rs756374268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827432 SCV000969078 likely benign not provided 2018-05-23 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.
Ambry Genetics RCV002319939 SCV002632680 uncertain significance Cardiovascular phenotype 2022-01-31 criteria provided, single submitter clinical testing The c.4122+4C>A intronic variant results from a C to A substitution 4 nucleotides after coding exon 33 in the ANK2 gene. This nucleotide position is highly 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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