ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2880+72G>A

gnomAD frequency: 0.00010  dbSNP: rs397516632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037084 SCV000060741 likely benign not specified 2013-02-18 criteria provided, single submitter clinical testing p.Val984Val in TJP2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the sp lice consensus sequence.

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