ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.185C>T (p.Thr62Met) (rs138241615)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152018 SCV000200588 likely benign not specified 2013-06-25 criteria provided, single submitter clinical testing Thr39Met in Exon 4 of TJP2: This variant is not expected to have clinical signi ficance because it has been observed in 0.3% (24/8600) of European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev; dbSNP rs138241615).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000662345 SCV000229054 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000662345 SCV001027267 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000662345 SCV001146186 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000662345 SCV001747591 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000662345 SCV001818482 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing Identified in unrelated patients with intrahepatic cholestasis of pregnancy in published literature (Dixon et al., 2017; Vitale et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33390354, 31450555, 32089630, 29238877, 28924228)
GenomeConnect, ClinGen RCV000662345 SCV000784712 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Elsea Laboratory,Baylor College of Medicine RCV001250045 SCV001424180 likely pathogenic Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 2020-04-01 no assertion criteria provided clinical testing

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