ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) (rs149911553)

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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,Partners HealthCare Personalized Medicine RCV000037069 SCV000060725 likely benign not specified 2013-01-17 criteria provided, single submitter clinical testing Thr603Ser in exon 14 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.2% (14/8600) of European American c hromosomes chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs149911553) and this amino acid position is not evolutionarily conserved in mammals.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037069 SCV000225854 likely benign not specified 2014-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311059 SCV000480559 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762560 SCV000892891 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Invitae RCV000762560 SCV001024192 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing

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