ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2778C>T (p.Asp926=) (rs140442228)

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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, Partners HealthCare Personalized Medicine RCV000037083 SCV000060740 benign not specified 2013-01-08 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and has been identified in 2.0% (173/8600) of Europea n American chromosomes and 0.5% (23/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs140442228).
PreventionGenetics,PreventionGenetics RCV000037083 SCV000310681 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000993327 SCV000717889 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993327 SCV001146189 benign not provided 2018-11-19 criteria provided, single submitter clinical testing

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