ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.297G>A (p.Ser99=)

gnomAD frequency: 0.00975  dbSNP: rs72709079
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Total submissions: 5
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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 RCV000037073 SCV000060729 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser76Ser in Exon 05 of TJP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.6% (115/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72709079)."
PreventionGenetics, part of Exact Sciences RCV000037073 SCV000310684 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000951099 SCV000717852 benign not provided 2018-05-22 criteria provided, single submitter clinical testing
Invitae RCV000951099 SCV001097464 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000951099 SCV001146190 benign not provided 2018-12-29 criteria provided, single submitter clinical testing

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