ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1137A>G (p.Leu379=)

gnomAD frequency: 0.08425  dbSNP: rs17062695
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Total submissions: 4
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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 RCV000037066 SCV000060722 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Leu356Leu in Exon 08 of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 14.1% (528/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs17062695)."
PreventionGenetics, part of Exact Sciences RCV000037066 SCV000310665 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000037066 SCV000717100 benign not specified 2017-05-09 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 RCV002054635 SCV002405875 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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