ClinVar Miner

Submissions for variant NM_001332.4(CTNND2):c.656CGC[5] (p.Pro224_Pro226del)

dbSNP: rs557341981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774992 SCV002004329 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544175 SCV003690043 uncertain significance Inborn genetic diseases 2021-05-27 criteria provided, single submitter clinical testing The c.671_679delCGCCGCCGC (p.P224_P226del) alteration is located in exon 7 (coding exon 7) of the CTNND2 gene. This alteration consists of an in-frame deletion of 9 nucleotides between nucleotide positions c.671 and c.679, resulting in the deletion of 3 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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